ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) (rs200509948)

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Total submissions: 9
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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, Partners HealthCare 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 Co-occurence with mutation in same gene (phase unknown);Other data supporting benign classification;Subpopulation frequency in support of benign classification
Invitae RCV000460672 SCV000561381 benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-12-03 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 Clinical Services Laboratory,Illumina RCV000460672 SCV001286952 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 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 Health, Inc RCV001182245 SCV001347633 benign Cardiomyopathy 2018-11-16 criteria provided, single submitter clinical testing

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