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NC_000001.10:g.(?_100459083)_(100459307_?)del AND Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 5, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001982875.3

Allele description

NC_000001.10:g.(?_100459083)_(100459307_?)del

Gene:
SLC35A3:solute carrier family 35 member A3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p21.2
Genomic location:
Chr1: 100459083 - 100459307 (on Assembly GRCh37)
Preferred name:
NC_000001.10:g.(?_100459083)_(100459307_?)del
HGVS:
NC_000001.10:g.(?_100459083)_(100459307_?)del

Condition(s)

Name:
Autism spectrum disorder - epilepsy - arthrogryposis syndrome (AMRS)
Identifiers:
MONDO: MONDO:0014248; MedGen: C3809910; Orphanet: 370943; OMIM: 615553

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002246073Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 5, 2021) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.

Edvardson S, Ashikov A, Jalas C, Sturiale L, Shaag A, Fedick A, Treff NR, Garozzo D, Gerardy-Schahn R, Elpeleg O.

J Med Genet. 2013 Nov;50(11):733-9. doi: 10.1136/jmedgenet-2013-101753. Epub 2013 Sep 12.

PubMed [citation]
PMID:
24031089

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.

Marini C, Hardies K, Pisano T, May P, Weckhuysen S, Cellini E, Suls A, Mei D, Balling R, Jonghe PD, Helbig I, Garozzo D; EuroEPINOMICS consortium AR working group., Guerrini R.

Am J Med Genet A. 2017 Apr;173(4):1119-1123. doi: 10.1002/ajmg.a.38112.

PubMed [citation]
PMID:
28328131
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV002246073.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the SLC35A3 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the SLC35A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC35A3 are known to be pathogenic (PMID: 24031089, 28328131). This variant has not been reported in the literature in individuals with SLC35A3-related conditions. For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023