ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.745dup (p.Thr249fs)

dbSNP: rs2073148989
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222719 SCV001394835 pathogenic Arrhythmogenic right ventricular dysplasia 10 2019-05-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr249Asnfs*19) in the DSG2 gene. It is expected to result in an absent or disrupted protein product. 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 conditions. Loss-of-function variants in DSG2 are known to be pathogenic (PMID: 23381804, 23911551). For these reasons, this variant has been classified as Pathogenic.

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