ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1284T>C (p.Tyr428=)

gnomAD frequency: 0.00001  dbSNP: rs202095254
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150538 SCV000197755 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Tyr428Tyr in Exon 10 of DSG2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 1/2870 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS;).
Labcorp Genetics (formerly Invitae), Labcorp RCV000537673 SCV000641961 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-07-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001186895 SCV001353504 likely benign Cardiomyopathy 2019-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381465 SCV002694027 likely benign Cardiovascular phenotype 2021-11-01 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.

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