ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.268G>T (p.Glu90Ter)

dbSNP: rs1987624232
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038836 SCV001202334 pathogenic Arrhythmogenic right ventricular dysplasia 11 2019-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu90*) in the DSC2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DSC2 are known to be pathogenic (PMID: 23911551). This variant has not been reported in the literature in individuals with DSC2-related conditions. This variant is not present in population databases (ExAC no frequency).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017778 SCV004848037 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2017-08-01 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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