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

gnomAD frequency: 0.05477  dbSNP: rs79241126

Total submissions: 16

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, Mass General Brigham 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, part of Exact Sciences	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	This alteration is classified as benign based on a combination of the following: 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.
Eurofins Ntd Llc (ga)	RCV000037280	SCV000337025	benign	not specified	2015-11-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094500	SCV000408240	likely benign	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. 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	RCV001811256	SCV000883741	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	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 dysplasia 10	2024-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000037280	SCV001927182	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037280	SCV001971159	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000037280	SCV001978714	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037280	SCV001979040	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000776008	SCV003802739	benign	Cardiomyopathy	2022-09-23	no assertion criteria provided	clinical testing