ClinVar Genomic variation as it relates to human health
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
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
-
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
Variation ID: 46102 Accession: VCV000046102.42
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 21q22.3 21: 42375787 (GRCh38) [ NCBI UCSC ] 21: 43795896 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Oct 5, 2015 May 12, 2024 Jan 31, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_001256317.3:c.1273G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001243246.1:p.Ala425Thr missense NM_024022.4:c.1276G>A NP_076927.1:p.Ala426Thr missense NM_032404.3:c.895G>A NP_115780.1:p.Ala299Thr missense NC_000021.9:g.42375787C>T NC_000021.8:g.43795896C>T NG_011629.2:g.25305G>A P57727:p.Ala426Thr - Protein change
- A426T, A299T, A425T
- Other names
- -
- Canonical SPDI
- NC_000021.9:42375786:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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.
-
0.00040 (T)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 30x 0.00031
1000 Genomes Project 0.00040
Exome Aggregation Consortium (ExAC) 0.00078
The Genome Aggregation Database (gnomAD), exomes 0.00097
The Genome Aggregation Database (gnomAD) 0.00105
Trans-Omics for Precision Medicine (TOPMed) 0.00124
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00138
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 | ||
---|---|---|---|---|---|---|
HI score
Help
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. |
|||
TMPRSS3 | - | - |
GRCh38 GRCh37 |
560 | 661 |
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. |
---|---|---|---|---|
Pathogenic/Likely pathogenic (8) |
criteria provided, multiple submitters, no conflicts
|
Dec 1, 2023 | RCV000039339.21 | |
Pathogenic (1) |
criteria provided, single submitter
|
Nov 12, 2018 | RCV000211742.7 | |
Pathogenic/Likely pathogenic (9) |
criteria provided, multiple submitters, no conflicts
|
Jan 31, 2024 | RCV000428693.26 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jul 15, 2021 | RCV001544534.2 |
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. |
|
---|---|---|---|---|---|
Pathogenic
(Jan 04, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000521273.8
First in ClinVar: Mar 08, 2017 Last updated: Jan 15, 2023 |
Comment:
Published functional studies suggest a damaging effect as the variant showed significantly diminished colony formation in a protease assay compared to wild-type (Lee et al., … (more)
Published functional studies suggest a damaging effect as the variant showed significantly diminished colony formation in a protease assay compared to wild-type (Lee et al., 2003); 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: 21786053, 11907649, 24526180, 21534946, 28263784, 30487145, 31412945, 34426522, 31980526, 30242206, 33297549, 31589614, 34652575, 32860223, 34599368, 34997062, 34171171, 28566687, Ozieblo_2022_IJMS, 29196752, 12920079, 33879512, 35961784, 34868270, 35682719) (less)
|
|
Likely pathogenic
(Apr 01, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Deafness, autosomal recessive 8
(Autosomal recessive inheritance)
Affected status: no
Allele origin:
germline
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
Accession: SCV000223954.1
First in ClinVar: Oct 05, 2015 Last updated: Oct 05, 2015 |
|
|
Likely pathogenic
(Mar 22, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Deafness, autosomal recessive 8
Affected status: yes
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV000597505.1
First in ClinVar: May 29, 2016 Last updated: May 29, 2016 |
|
|
Likely pathogenic
(Mar 31, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000225700.5
First in ClinVar: Jun 28, 2015 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 5
Sex: mixed
|
|
Likely pathogenic
(Aug 07, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Athena Diagnostics
Accession: SCV001474923.1
First in ClinVar: Jan 26, 2021 Last updated: Jan 26, 2021 |
Comment:
The best available variant frequency is consistent with disease. Assessment of experimental evidence suggests this variant results in abnormal protein function. Strong co-segregation with disease … (more)
The best available variant frequency is consistent with disease. Assessment of experimental evidence suggests this variant results in abnormal protein function. Strong co-segregation with disease in affected individuals from a single family. (less)
|
|
Pathogenic
(Nov 25, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal recessive nonsyndromic hearing loss 8
Affected status: yes
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV001524839.1
First in ClinVar: Mar 22, 2021 Last updated: Mar 22, 2021 |
Comment:
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
|
|
Pathogenic
(-)
|
criteria provided, single submitter
Method: research
|
Autosomal recessive nonsyndromic hearing loss 8
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital
Accession: SCV001792227.1
First in ClinVar: Oct 16, 2021 Last updated: Oct 16, 2021 |
Comment:
in compound heterozygosis with the c.916G>A variant in three siblings with bilateral non-syndromic sensorineural postlingual progressive hearing loss; 7 normal hearing heterozygous of either variant, … (more)
in compound heterozygosis with the c.916G>A variant in three siblings with bilateral non-syndromic sensorineural postlingual progressive hearing loss; 7 normal hearing heterozygous of either variant, 2 normal hearing w/o variants (familial) (less)
Observation 1:
Clinical Features:
Postlingual sensorineural hearing impairment (present)
Family history: yes
Segregation observed: yes
Secondary finding: no
Observation 2:
Clinical Features:
Postlingual sensorineural hearing impairment (present)
Family history: yes
Segregation observed: yes
Secondary finding: no
Observation 3:
Clinical Features:
Postlingual sensorineural hearing impairment (present)
Family history: yes
Segregation observed: yes
Secondary finding: no
|
|
Pathogenic
(Dec 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal recessive nonsyndromic hearing loss 8
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV004171709.1
First in ClinVar: Dec 02, 2023 Last updated: Dec 02, 2023 |
Clinical Features:
Hearing impairment (present) , High-frequency hearing impairment (present) , Adult onset sensorineural hearing impairment (present)
|
|
Pathogenic
(Nov 12, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Rare genetic deafness
(Autosomal recessive inheritance)
Affected status: not provided
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000063023.6
First in ClinVar: May 03, 2013 Last updated: Aug 26, 2019 |
Comment:
The p.Ala426Thr variant in TMPRSS3 has been reported in >10 individuals with hea ring loss, at least 4 of whom harbored a second pathogenic variant … (more)
The p.Ala426Thr variant in TMPRSS3 has been reported in >10 individuals with hea ring loss, at least 4 of whom harbored a second pathogenic variant in TMPRSS3 (2 compound heterozygous occurences and 2 co-occurences with phase unknown; Watten hofer 2002, Weegerink 2011, Baux 2017, Lechowicz 2017, LMM data). Furthermore, t he p.Ala426Thr variant segregated with disease in 5 affected relatives from 2 fa milies (Weegerink 2011, LMM data). This variant has also been identified in 0.15 % (187/129114) of European chromosomes by the Genome Aggregation Database (gnomA D, http://gnomad.broadinstitute.org); however, this frequency is low enough to b e consistent with a recessive carrier frequency. In vitro functional studies sup port an impact on protein function (Lee 2003). Finally, this variant has been re ported as Likely Pathogenic in ClinVar (Variation ID 46102). In summary, the p.A la426Thr variant meets criteria to be classified as pathogenic for hearing loss in an autosomal recessive manner based upon biallelic case observations, segrega tion studies and functional evidence. ACMG/AMP Criteria applied: PM3_Strong, PP1 _Strong, PP3, PS3_Supporting. (less)
Number of individuals with the variant: 15
|
|
Pathogenic
(Jul 15, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Nonsyndromic genetic hearing loss
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
INGEBI, INGEBI / CONICET
Accession: SCV001763580.1
First in ClinVar: Aug 07, 2021 Last updated: Aug 07, 2021 |
Comment:
Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria:The filtering allele frequency of c.1276G>A variant (p.A426T) in TMPRSS3 gene is 0.1% (187/129114 with … (more)
Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria:The filtering allele frequency of c.1276G>A variant (p.A426T) in TMPRSS3 gene is 0.1% (187/129114 with 95% CI) in european non-finnish ethnic group obtanied from gnomAD population database, meeting BS1_Sup. This variant has been found in trans with 4 pathogenic/likely pathogenic variants in hearing impairment patients applying for PM3_VS (PMID: 21786053, 28566687, 29196752 and this report). There is one familial case with four sibling that showed high frequency hearing impairment with childhood onset and eight siblings with normal hearing. All the affected members had the A426T variant in trans with a pathogenic variant in TMPRSS3 gene while all the unaffected siblings carried only one variant or were wild type, applying to PP1_Strong (PMID: 21786053). A yeast based protease assay demonstrated that A426T mutatn possesed a significantly disminished protelotytic activity, PMID:12920079, PS3_Sup. Considering: BS1_Sup, PM3_VS, PP1_S and PS3_Sup, the c.1276G>A variant is classified as Pathogenic for autosomal recessive non-syndromic hearing loss. (less)
Clinical Features:
Postlingual bilatereal sloping hearing loss (present)
Family history: no
Sex: female
Ethnicity/Population group: Caucasian
Geographic origin: Argentina
Tissue: blood
|
|
Pathogenic
(Jul 01, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal recessive nonsyndromic hearing loss 8
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Genetics and Molecular Pathology, SA Pathology
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002556741.2
First in ClinVar: Aug 08, 2022 Last updated: Dec 17, 2022 |
Comment:
The TMPRSS3 c.1273G>A variant is classified as PATHOGENIC (PS3, PS4, PM3, PP1_moderate) The TMPRSS3 c.1273G>A variant is a single nucleotide change in exon 12/13 of … (more)
The TMPRSS3 c.1273G>A variant is classified as PATHOGENIC (PS3, PS4, PM3, PP1_moderate) The TMPRSS3 c.1273G>A variant is a single nucleotide change in exon 12/13 of the TMPRSS3 gene, which is predicted to change the amino acid alanine at position 425 in the protein to threonine. The variant has been reported in multiple individuals with a clinical presentation of Deafness, autosomal recessive 8/10 (MIM:601072) (PMID:21786053; PMID:31412945; PMID:28566687) (PS4). Published studies have shown this variant to co-segregate with disease in multiple families (PMID:21786053; PMID:31412945; PMID:28566687) (PP1_moderate). In vitro functional studies have shown this variant leads to reduced proteolytic activity of ~24% compared with WT (PMID:12920079) (PS3). This variant has been reported in dbSNP (rs56264519) and has been reported in population databases (163/152110, 1 homozygote). This variant has been reported in ClinVar as Pathogenic by other clinical laboratories (Variation ID: 46102) and as damaging for nonsyndromic hearing loss in the disease database HGMD (CM116227). (less)
|
|
Likely pathogenic
(Sep 29, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal recessive nonsyndromic hearing loss 8
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV000611244.2
First in ClinVar: Mar 08, 2017 Last updated: Dec 31, 2022 |
|
|
Pathogenic
(Jun 07, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Not provided
Affected status: unknown
Allele origin:
germline
|
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV004225756.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
PP1_strong, PM3_very_strong, PS3_moderate
Number of individuals with the variant: 1
|
|
Pathogenic
(Jul 01, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal recessive nonsyndromic hearing loss 8
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV002020240.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
|
|
Pathogenic
(Jan 31, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV002197852.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 426 of the TMPRSS3 protein (p.Ala426Thr). … (more)
This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 426 of the TMPRSS3 protein (p.Ala426Thr). This variant is present in population databases (rs56264519, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individuals with nonsyndromic hearing loss (PMID: 21786053, 28566687, 29196752, 30242206). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Ala425Thr. ClinVar contains an entry for this variant (Variation ID: 46102). 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 TMPRSS3 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects TMPRSS3 function (PMID: 12920079). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
Pathogenic
(Oct 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV004153707.5
First in ClinVar: Nov 20, 2023 Last updated: May 12, 2024 |
Comment:
TMPRSS3: PM3:Very Strong, PP1:Strong, PM2:Supporting, PS3:Supporting
Number of individuals with the variant: 1
|
|
Likely pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001957386.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001548815.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The TMPRSS3 p.A426T variant has been reported in multiple cases of hearing loss and was found to segregate with disease in five affected individuals from … (more)
The TMPRSS3 p.A426T variant has been reported in multiple cases of hearing loss and was found to segregate with disease in five affected individuals from two families who were compound heterozygous for this variant and another pathogenic variant (Weegerink_2011_PMID:21786053, Oldak_2019_PMID:31412945; Lechowicz_2017_PMID:28566687). The variant was identified in dbSNP (ID: rs56264519), LOVD 3.0 and ClinVar (classified as pathogenic by Laboratory for Molecular Medicine and as likely pathogenic by Fulgent Genetics, GeneDx, Knight Diagnostic Laboratories, EGL Genetic Diagnostics and Genetics Services Laboratory, University of Chicago). The variant was identified in control databases in 268 of 282764 chromosomes at a frequency of 0.0009478 (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the following populations: European (non-Finnish) in 187 of 129114 chromosomes (freq: 0.001448), Latino in 50 of 35432 chromosomes (freq: 0.001411), Other in 9 of 7220 chromosomes (freq: 0.001247), Ashkenazi Jewish in 5 of 10366 chromosomes (freq: 0.000482), African in 9 of 24950 chromosomes (freq: 0.000361), South Asian in 5 of 30616 chromosomes (freq: 0.000163) and European (Finnish) in 3 of 25116 chromosomes (freq: 0.000119), but was not observed in the East Asian population. The p.A426 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and three of four in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. Functional analysis in yeast demonstrated that the p.A426T variant caused significantly reduced protein activity (Lee_2003_PMID: 12920079). In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
|
|
Likely pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001970140.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
|
|
click to load more click to collapse |
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 |
---|---|---|---|---|
Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss. | Batissoco AC | Human genetics | 2022 | PMID: 34599368 |
Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss. | Ołdak M | Journal of translational medicine | 2019 | PMID: 31412945 |
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry. | Chakchouk I | European journal of human genetics : EJHG | 2019 | PMID: 31053783 |
In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function. | Shearer AE | Scientific reports | 2018 | PMID: 30242206 |
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients. | Baux D | Scientific reports | 2017 | PMID: 29196752 |
Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population. | Gao X | Neural plasticity | 2017 | PMID: 28695016 |
Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen. | Lechowicz U | Scientific reports | 2017 | PMID: 28566687 |
Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing. | Leone MP | Molecular and cellular probes | 2017 | PMID: 28263784 |
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation. | Chung J | Journal of molecular medicine (Berlin, Germany) | 2014 | PMID: 24526180 |
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. | Weegerink NJ | Journal of the Association for Research in Otolaryngology : JARO | 2011 | PMID: 21786053 |
Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3. | Lee YJ | Journal of medical genetics | 2003 | PMID: 12920079 |
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. | Wattenhofer M | Journal of molecular medicine (Berlin, Germany) | 2002 | PMID: 11907649 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TMPRSS3 | - | - | - | - |
click to load more click to collapse |
Text-mined citations for rs56264519 ...
HelpRecord last updated May 12, 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.