ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) (rs777688726)

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
Invitae RCV000226472 SCV000290725 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 11 2019-07-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 345 of the DSC2 protein (p.Ile345Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs777688726, ExAC 0.009%). This variant has been observed in individuals with arrhythmogenic right ventricular cardiomyopathy (PMID: 17963498, 28471438). ClinVar contains an entry for this variant (Variation ID: 241471). This variant has been reported to affect DSC2 protein function (PMID: 17963498). 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.
Ambry Genetics RCV000619062 SCV000735575 uncertain significance Cardiovascular phenotype 2016-10-25 criteria provided, single submitter clinical testing Insufficient evidence
Klaassen Lab,Charite University Medicine Berlin RCV000853178 SCV000995893 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2019-07-03 criteria provided, single submitter research

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.