Submissions for variant NM_001943.5(DSG2):c.1550C>T (p.Ala517Val)

gnomAD frequency: 0.00184  dbSNP: rs200509948

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000150539	SCV000051380	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150539	SCV000197757	likely benign	not specified	2015-03-23	criteria provided, single submitter	clinical testing	p.Ala517Val in exon 11 of DSG2: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (65/9800) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs200509948).
GeneDx	RCV000150539	SCV000233499	likely benign	not specified	2017-09-25	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000248864	SCV000319749	benign	Cardiovascular phenotype	2015-06-03	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000460672	SCV000561381	benign	Arrhythmogenic right ventricular dysplasia 10	2024-01-31	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000150539	SCV000747977	likely benign	not specified	2017-03-01	criteria provided, single submitter	clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	RCV000781971	SCV000920426	likely benign	Hypertrophic cardiomyopathy	2019-01-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000460672	SCV001286952	uncertain significance	Arrhythmogenic right ventricular dysplasia 10	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Color Diagnostics, LLC DBA Color Health	RCV001182245	SCV001347633	benign	Cardiomyopathy	2018-11-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000150539	SCV002041641	likely benign	not specified	2021-11-21	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000150539	SCV001924746	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000150539	SCV001954326	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727599	SCV001973686	likely benign	not provided		no assertion criteria provided	clinical testing