Submissions for variant NM_001943.5(DSG2):c.2886T>G (p.Ile962Met)

gnomAD frequency: 0.00285  dbSNP: rs79229040

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037295	SCV000060952	likely benign	not specified	2012-02-09	criteria provided, single submitter	clinical testing	Ile962Met in exon 15 of DSG2: This variant is not expected to have clinical sign ificance because it is not located within the splice consensus sequence and has been identified in 0.7% (24/3268) of African American chromosomes by the NHLBI E xome Sequencing Project in a broad population (http://evs.gs.washington.edu/EVS; dbSNP rs79229040). Ile962Met in exon 15 of DSG2 (rs79229040; allele frequency = 0.7%, 24/3268) **
GeneDx	RCV000037295	SCV000168250	benign	not specified	2013-05-29	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.
Invitae	RCV000231454	SCV000287238	benign	Arrhythmogenic right ventricular dysplasia 10	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617277	SCV000735457	benign	Cardiovascular phenotype	2016-07-21	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.
Color Diagnostics, LLC DBA Color Health	RCV000776293	SCV000911586	benign	Cardiomyopathy	2018-06-04	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000037295	SCV001433088	likely benign	not specified	2020-02-20	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000776293	SCV004240508	benign	Cardiomyopathy	2023-06-07	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530060	SCV001744620	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037295	SCV001925859	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001530060	SCV001927217	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001530060	SCV001967920	likely benign	not provided		no assertion criteria provided	clinical testing