ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2578_2581GAAG[3] (p.Gly863fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818101 SCV000958696 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 11 2018-09-13 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DSC2 gene (p.Gly863Lysfs*13). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 39 amino acids of the DSC2 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 25616645). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.