ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1089G>A (p.Ser363=)

gnomAD frequency: 0.00006  dbSNP: rs372598337
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001089129 SCV000561391 likely benign Arrhythmogenic right ventricular dysplasia 10 2024-01-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757182 SCV000885318 likely benign not provided 2018-05-14 criteria provided, single submitter clinical testing The p.Ser363Ser variant (rs372598337) does not alter the amino acid sequence of the DSG2 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with cardiomyopathy in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.006 percent (identified on 16 out of 277,022 chromosomes) and has been reported to the ClinVar database as a likely benign variant (Variant ID: 416112). Based on these observations, the p.Ser363Ser variant is likely to be benign.
Color Diagnostics, LLC DBA Color Health RCV001178583 SCV001343059 likely benign Cardiomyopathy 2018-11-08 criteria provided, single submitter clinical testing
GeneDx RCV000757182 SCV001832127 likely benign not provided 2020-05-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001778971 SCV002014819 likely benign not specified 2021-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446894 SCV002734180 likely benign Cardiovascular phenotype 2020-02-27 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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