ClinVar Genomic variation as it relates to human health
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)
Variation ID: 181522 Accession: VCV000181522.54
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1q22 1: 155904494 (GRCh38) [ NCBI UCSC ] 1: 155874285 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline May 18, 2015 May 12, 2024 Jun 16, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_006912.6:c.246T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_008843.1:p.Phe82Leu missense NM_001256820.2:c.138T>G NP_001243749.1:p.Phe46Leu missense NM_001256821.2:c.297T>G NP_001243750.1:p.Phe99Leu missense NC_000001.11:g.155904494A>C NC_000001.10:g.155874285A>C NG_033885.1:g.11909T>G LRG_1372:g.11909T>G LRG_1372t1:c.246T>G LRG_1372p1:p.Phe82Leu Q92963:p.Phe82Leu - Protein change
- F82L, F99L, F46L
- Other names
- p.F82L:TTT>TTG
- Canonical SPDI
- NC_000001.11:155904493:A:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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RIT1 | - | - |
GRCh38 GRCh37 |
306 | 330 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic/Likely pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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Apr 11, 2023 | RCV000054406.28 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Dec 17, 2022 | RCV000159101.29 | |
Pathogenic (1) |
no assertion criteria provided
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- | RCV000207343.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 24, 2020 | RCV001255602.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 22, 2019 | RCV001375970.2 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Jan 5, 2017 | RCV001813414.4 | |
RIT1-related disorder
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Pathogenic (1) |
criteria provided, single submitter
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Mar 13, 2023 | RCV003398818.4 |
Pathogenic (1) |
criteria provided, single submitter
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Jun 16, 2023 | RCV003483526.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Likely pathogenic
(Jan 05, 2017)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome and Noonan-related syndrome
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, The Hospital for Sick Children
Accession: SCV002060941.1
First in ClinVar: Jan 20, 2022 Last updated: Jan 20, 2022 |
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Pathogenic
(Dec 17, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
Accession: SCV002818140.1
First in ClinVar: Jan 07, 2023 Last updated: Jan 07, 2023 |
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Pathogenic
(Mar 21, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000209044.12
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
Published functional studies demonstrate that p.(F82L) is a gain-of-function variant, which is an established mechanism of disease in the RIT1 gene (Aoki et al., 2013; … (more)
Published functional studies demonstrate that p.(F82L) is a gain-of-function variant, which is an established mechanism of disease in the RIT1 gene (Aoki et al., 2013; Fang et al., 2016); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27942422, 24803665, 27226556, 24469055, 25124994, 26242988, 27101134, 26757980, 23791108, 26714497, 24939608, 27699752, 33258288, 30266093) (less)
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Likely pathogenic
(Apr 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome 8
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV004050475.1
First in ClinVar: Oct 28, 2023 Last updated: Oct 28, 2023 |
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Pathogenic
(Feb 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001247929.21
First in ClinVar: May 09, 2020 Last updated: May 12, 2024 |
Number of individuals with the variant: 1
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Pathogenic
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome 8
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000893221.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
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Pathogenic
(Aug 07, 2018)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: yes
Allele origin:
germline
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Blueprint Genetics
Accession: SCV000927839.1
First in ClinVar: Jul 27, 2019 Last updated: Jul 27, 2019
Comment:
Patient analyzed with Noonan Syndrome Panel
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Pathogenic
(Aug 24, 2020)
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criteria provided, single submitter
Method: clinical testing
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Rasopathy
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001432125.1
First in ClinVar: Sep 14, 2020 Last updated: Sep 14, 2020 |
Comment:
Variant summary: RIT1 c.246T>G (p.Phe82Leu) results in a non-conservative amino acid change located in the Small GTP-binding protein domain (IPR005225) of the encoded protein sequence. … (more)
Variant summary: RIT1 c.246T>G (p.Phe82Leu) results in a non-conservative amino acid change located in the Small GTP-binding protein domain (IPR005225) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250842 control chromosomes (gnomAD). c.246T>G has been reported in the literature in multiple individuals affected with Noonan Syndrome. In addition, the variant was reported as de novo in several patients (Aoki_2013, Bertola_2014, Joyce_2015, Kouz_2016, Yaoita_2016). These data indicate that the variant is very likely to be associated with disease. Moreover, variants in the same residue (F82S, F82V) were found in individuals affected with Noonan Syndrome (Aoki_2013, Kouz_2016) and nearby residues (p.A77P/S/T, p.E81G, p.T83P, p.A84V) have been reported in HGMD in association with Noonan Syndrome, supporting the functional importance of this residue and region of the protein. Functional studies report this variant has an impact on protein function and results in increased RIT1 activity in cells (Aoki_2013, Berger_2014). Six ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Aug 22, 2019)
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criteria provided, single submitter
Method: clinical testing
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Non-immune hydrops fetalis
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
de novo
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Genomic Medicine Lab, University of California San Francisco
Study: CSER-P3EGS
Accession: SCV001572965.1 First in ClinVar: May 10, 2021 Last updated: May 10, 2021 |
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Pathogenic
(Jun 17, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001762139.1
First in ClinVar: Jul 30, 2021 Last updated: Jul 30, 2021 |
Clinical Features:
Hypertrophic cardiomyopathy (present) , Hypotonia (present) , Pulmonary artery stenosis (present) , Thrombocytopenia (present)
Sex: female
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Pathogenic
(Nov 30, 2021)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome 8
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001159742.2
First in ClinVar: Feb 09, 2020 Last updated: Jan 08, 2022 |
Comment:
The RIT1 c.246T>G; p.Phe82Leu variant (rs730881014), is reported in the literature in multiple individuals affected with Noonan syndrome, including several cases in which the variant … (more)
The RIT1 c.246T>G; p.Phe82Leu variant (rs730881014), is reported in the literature in multiple individuals affected with Noonan syndrome, including several cases in which the variant was de novo (Aoki 2013, Bertola 2014, Cave 2016, Joyce 2016, Kiel 2014, Kouz 2016, Yaoita 2016). This variant is reported as pathogenic by multiple laboratories in ClinVar (Variation ID: 181522), and is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. Additionally, other variants at this codon (c.246T>A; p.Phe82Leu and p.Phe82Val/Ile/Ser) have been reported in individuals with Noonan syndrome and are considered pathogenic (Aoki 2013, Cave 2016, Kouz 2016, Yaoita 2016). The phenylalanine at codon 82 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Functional analyses of the p.Phe82Leu variant protein show increased RIT1 activity (Aoki 2013, Berger 2014, Yaoita 2016), and codon 82 lies within the functionally conserved switch II domain where many pathogenic variants in RIT1 are located (Aoki 2016). Based on available information, the c.246T>G; p.Phe82Leu variant is considered to be pathogenic. References: Aoki Y et al. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet. 2013 Jul 11;93(1):173-80. Aoki Y et al. Recent advances in RASopathies. J Hum Genet. 2016 Jan;61(1):33-9. Berger AH et al. Oncogenic RIT1 mutations in lung adenocarcinoma. Oncogene. 2014 Aug 28;33(35):4418-23. Bertola DR et al. Further evidence of the importance of RIT1 in Noonan syndrome. Am J Med Genet A. 2014 Nov;164A(11):2952-7. Cave H et al. Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. Eur J Hum Genet. 2016 Aug;24(8):1124-31. Joyce S et al. The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome. Eur J Hum Genet. 2016 May;24(5):690-6. Kiel C and Serrano L. Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. Mol Syst Biol. 2014 May 6;10:727. Kouz K et al. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med. 2016 Dec;18(12):1226-1234. Yaoita M et al. Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. Hum Genet. 2016 Feb;135(2):209-22. (less)
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Pathogenic
(Dec 13, 2021)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome 8
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Genetics and Molecular Pathology, SA Pathology
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002556615.2
First in ClinVar: Aug 08, 2022 Last updated: Dec 17, 2022 |
Comment:
The RIT1 c.246T>G variant is a single nucleotide change in exon 5/6 of the RIT1 gene, which is predicted to change the amino acid phenylalanine … (more)
The RIT1 c.246T>G variant is a single nucleotide change in exon 5/6 of the RIT1 gene, which is predicted to change the amino acid phenylalanine at position 82 in the protein to leucine. This variant has been identified as a de novo variant in this patient with no family history of this condition (PS2). This variant has been reported multiple times in the literature, including as a de novo variant and in a prenatal setting, in patients with Noonan syndrome (PS4) (PMID: 23791108; 27699752; 33190430; 30266093; 25124994). A different de novo pathogenic variant has also been reported at this same amino acid position (Phe82Val, PMID: 23791108). This variant is absent from population databases (PM2). The variant has been reported in dbSNP (rs730881014). The variant has been reported as Pathogenic by other diagnostic laboratories (ClinVar Variation ID: 181522). Computational predictions support a deleterious effect on the gene or gene product (PP3). (less)
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Pathogenic
(Mar 13, 2023)
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criteria provided, single submitter
Method: clinical testing
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RIT1-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004112509.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The RIT1 c.297T>G variant is predicted to result in the amino acid substitution p.Phe99Leu. In an alternate transcript (NM_006912.5) this variant is referred to as … (more)
The RIT1 c.297T>G variant is predicted to result in the amino acid substitution p.Phe99Leu. In an alternate transcript (NM_006912.5) this variant is referred to as c.246T>G (p.Phe82Leu). This variant has been reported in multiple individuals with Noonan syndrome, including several cases in which the variant was de novo (Bertola et al. 2014. PubMed ID: 25124994; Aoki et al. 2016. PubMed ID: 26446362; Joyce et al. 2016. PubMed ID: 26242988; Kouz et al. 2016. PubMed ID: 27101134; Yaoita et al. 2016. PubMed ID: 26714497). Additionally, other variants impacting the same amino acid (p.Phe82Val/Ile/Ser) have been reported in individuals with Noonan syndrome (Aoki et al. 2016. PubMed ID: 26446362; Cavé et al. 2016. PubMed ID: 26757980; Kouz et al. 2016. PubMed ID: 27101134; Yaoita et al. 2016. PubMed ID: 26714497). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic. (less)
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Pathogenic
(Jun 16, 2023)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome
Congenital heart disease
Explanation for multiple conditions: Co-occurring.
The variant causes a combination of distinct diseases; this scenario is expected to be rare.
Affected status: yes
Allele origin:
germline
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Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
Accession: SCV004176287.1
First in ClinVar: Jan 26, 2024 Last updated: Jan 26, 2024 |
Comment:
Heterozygous variant NM_006912:c.246T>G (p.Phe82Leu) in the RIT1 gene was found on WES data in female proband (7 month.old., Caucasian) with Noonan Syndrome and Congenital Heart … (more)
Heterozygous variant NM_006912:c.246T>G (p.Phe82Leu) in the RIT1 gene was found on WES data in female proband (7 month.old., Caucasian) with Noonan Syndrome and Congenital Heart Disease. No additional rare candidate variants (Class III-V of pathogenicity) were found in this proband. This variant is absent in The Genome Aggregation Database (gnomAD) v2.1.1 and v.3.1.2 (Date of access with 16-06-2023). Clinvar contains entry on this variant (Variation ID: 181522). This variant has been reported in 9 articles with consistent phenotypes (PMID: 33258288, 30266093, 28323383, 27101134, 26757980, 26714497, 26242988, 24469055, 23791108). Alternative nucleotide changes have been described in this codon (PMID: 33190430, 27699752, 25049390, 24939608). Most in silico predictors show pathogenic result of the protein change (varsome.com). In accordance with ACMG(2015) criteria this variant is classified as Pathogenic (V) with following criteria selected: PS1, PS4, PM1, PM2, PM5, PP3. (less)
Age: 0-9 years
Sex: female
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Pathogenic
(Sep 02, 2022)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome 8
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000541750.10
First in ClinVar: Oct 11, 2015 Last updated: Feb 20, 2024 |
Comment:
This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is … (more)
This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 82 of the RIT1 protein (p.Phe82Leu). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Phe82 amino acid residue in RIT1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 23791108, 25049390, 26446362, 26757980). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects RIT1 function (PMID: 23791108, 24469055, 26714497). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RIT1 protein function. ClinVar contains an entry for this variant (Variation ID: 181522). This missense change has been observed in individual(s) with Noonan syndrome (PMID: 23791108, 25124994, 26242988, 26714497, 26757980, 27101134). In at least one individual the variant was observed to be de novo. (less)
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Pathogenic
(Jul 11, 2013)
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no assertion criteria provided
Method: literature only
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NOONAN SYNDROME 8
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000082883.2
First in ClinVar: Aug 04, 2013 Last updated: May 18, 2015 |
Comment on evidence:
In 2 unrelated patients with Noonan syndrome-8 (NS8; 615355), Aoki et al. (2013) identified a de novo heterozygous c.246T-G transversion in exon 5 of the … (more)
In 2 unrelated patients with Noonan syndrome-8 (NS8; 615355), Aoki et al. (2013) identified a de novo heterozygous c.246T-G transversion in exon 5 of the RIT1 gene, resulting in a phe82-to-leu (F82L) substitution at a conserved residue. The mutation, which was initially found by exome sequencing, was not present in several control databases. In vitro cellular expression studies showed that the F82L mutation resulted in a gain of function. (less)
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Pathogenic
(-)
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no assertion criteria provided
(clinical testing)
Method: clinical testing
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Noonan's syndrome
Affected status: yes
Allele origin:
de novo
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Service de Génétique Moléculaire, Hôpital Robert Debré
Additional submitter:
Service de Génétique Clinique, Hôpital Robert Debré
Accession: SCV000211883.1
First in ClinVar: Feb 10, 2016 Last updated: Feb 10, 2016 |
Observation 1:
Number of individuals with the variant: 1
Observation 2:
Number of individuals with the variant: 1
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases. | Quaio CRDC | American journal of medical genetics. Part C, Seminars in medical genetics | 2020 | PMID: 33258288 |
Lymphatic system malformations in Noonan syndrome: Two case reports and imaging analysis. | Liu NF | Lymphology | 2020 | PMID: 33190430 |
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. | Normand EA | Genome medicine | 2018 | PMID: 30266093 |
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. | Zweier M | American journal of medical genetics. Part A | 2017 | PMID: 28323383 |
[RIT1: a novel gene associated with Noonan syndrome]. | Arroyo-Carrera I | Revista de neurologia | 2016 | PMID: 27699752 |
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. | Kouz K | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 27101134 |
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. | Cavé H | European journal of human genetics : EJHG | 2016 | PMID: 26757980 |
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. | Yaoita M | Human genetics | 2016 | PMID: 26714497 |
Recent advances in RASopathies. | Aoki Y | Journal of human genetics | 2016 | PMID: 26446362 |
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome. | Joyce S | European journal of human genetics : EJHG | 2016 | PMID: 26242988 |
Further evidence of the importance of RIT1 in Noonan syndrome. | Bertola DR | American journal of medical genetics. Part A | 2014 | PMID: 25124994 |
Next-generation sequencing identifies rare variants associated with Noonan syndrome. | Chen PC | Proceedings of the National Academy of Sciences of the United States of America | 2014 | PMID: 25049390 |
Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity. | Gos M | American journal of medical genetics. Part A | 2014 | PMID: 24939608 |
Oncogenic RIT1 mutations in lung adenocarcinoma. | Berger AH | Oncogene | 2014 | PMID: 24469055 |
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. | Aoki Y | American journal of human genetics | 2013 | PMID: 23791108 |
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Text-mined citations for rs730881014 ...
HelpRecord last updated May 19, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.