ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1433dup (p.Thr480fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002601835 SCV002952712 pathogenic Arrhythmogenic right ventricular dysplasia 10 2022-07-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with DSG2-related conditions (PMID: 31638835). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr480Asnfs*11) in the DSG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DSG2 are known to be pathogenic (PMID: 17105751, 31386562).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017943 SCV004848036 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2019-01-28 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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