Submissions for variant NM_001943.5(DSG2):c.2085G>A (p.Thr695=)

gnomAD frequency: 0.00006  dbSNP: rs554396523

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000540581	SCV000641970	likely benign	Arrhythmogenic right ventricular dysplasia 10	2024-01-15	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000611345	SCV000712955	likely benign	not specified	2017-02-10	criteria provided, single submitter	clinical testing	p.Thr695Thr in exon 14 of DSG2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 4/66734 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs554396523).
Ambry Genetics	RCV000621592	SCV000737560	likely benign	Cardiovascular phenotype	2016-06-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV001179325	SCV001343961	likely benign	Cardiomyopathy	2018-11-30	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003999235	SCV004821754	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2023-12-18	criteria provided, single submitter	clinical testing