ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1776G>A (p.Ala592=)

gnomAD frequency: 0.00004  dbSNP: rs727502980
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150519 SCV000197711 likely benign not specified 2014-07-03 criteria provided, single submitter clinical testing p.Ala592Ala in exon 12 of DSC2: 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.
Invitae RCV001087864 SCV000766360 likely benign Arrhythmogenic right ventricular dysplasia 11 2023-06-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770534 SCV000901981 likely benign Cardiomyopathy 2016-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000827676 SCV000969334 likely benign not provided 2021-02-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000770534 SCV001341855 likely benign Cardiomyopathy 2018-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399523 SCV002714835 likely benign Cardiovascular phenotype 2020-08-31 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.

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.