ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) (rs79241126)

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Total submissions: 11
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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 RCV000172746 SCV000051531 benign Arrhythmogenic right ventricular cardiomyopathy 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037280 SCV000060937 benign not specified 2011-06-03 criteria provided, single submitter clinical testing The Glu713Lys variant in DSG2 is a common variant with allele frequencies rangin g from 2-8% in various control cohorts (dbSNP-rs7924116, Biedermann 2005, Basso 2006, Posche 2008, Milting 2008, Drudge 2008, Kauke 2010). At this frequency thi s variant is highly unlikley to cause disease when present in isoaltion but a mo difying role cannot be excluded. Please note that it has also been referred to i n the literature as Glu712Lys.
GeneDx RCV000037280 SCV000233467 benign not specified 2013-03-22 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.
PreventionGenetics,PreventionGenetics RCV000037280 SCV000308553 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000246238 SCV000317544 benign Cardiovascular phenotype 2015-06-23 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000037280 SCV000337025 benign not specified 2015-11-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094500 SCV000408240 likely benign 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282214 SCV000883741 benign none provided 2020-08-21 criteria provided, single submitter clinical testing
Color Health, Inc RCV000776008 SCV000910545 benign Cardiomyopathy 2018-04-08 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000037280 SCV001433059 benign not specified 2019-07-04 criteria provided, single submitter clinical testing
Invitae RCV001094500 SCV001729153 benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-12-04 criteria provided, single submitter clinical testing

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