ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1795T>C (p.Cys599Arg) (rs762413624)

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
GeneDx RCV000181223 SCV000233502 uncertain significance not provided 2014-04-22 criteria provided, single submitter clinical testing p.Cys599Arg (TGC>CGC): c.1795 T>C in exon 12 of the DSG2 gene (NM_001943.3). The C599R variant has not been published as a mutation or as a benign polymorphism to our knowledge. The C599R variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The C599R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. No missense mutations in nearby residues have been reported in association with ARVC.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170376 SCV001332950 uncertain significance Cardiomyopathy 2019-03-14 criteria provided, single submitter clinical testing
Color Health, Inc RCV001170376 SCV001344286 uncertain significance Cardiomyopathy 2019-12-02 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.