ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2817del (p.Tyr940fs) (rs1567934773)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699399 SCV000828106 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 10 2018-05-02 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DSG2 gene (p.Tyr940Metfs*12). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 179 amino acids of the DSG2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DSG2-related disease. A different truncation downstream of this variant (p.Glu1020Alafs*18) has been determined to be likely pathogenic (PMID: 21397041, 20864495, 23381804). This suggests that deletion of this region of the DSG2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Color RCV001192101 SCV001360076 uncertain significance Cardiomyopathy 2019-12-04 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.