ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1552G>C (p.Val518Leu) (rs397517394)

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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000039410 SCV000258006 uncertain significance not specified 2015-07-01 criteria provided, single submitter clinical testing
Invitae RCV000540622 SCV000644992 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-10-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039410 SCV000063094 uncertain significance not specified 2012-06-26 criteria provided, single submitter clinical testing The Val518Leu variant in DSC2 has not been reported in the literature nor previo usly identified by our laboratory. The affected amino acid (Valine, Val) is not well conserved in evolution and other computational analyses (biochemical amino acid properties, AlignGVGD, and SIFT) suggest that this variant may not impact t he protein, though this information is not predictive enough to rule out pathoge nicity. Additional information is needed to fully assess the clinical significan ce of the Val518Leu variant.

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.