ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1089G>A (p.Ser363=) (rs372598337)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001089129 SCV000561391 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-08-03 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 Health, Inc RCV001178583 SCV001343059 likely benign Cardiomyopathy 2018-11-08 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.