ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.917G>A (p.Trp306Ter)

dbSNP: rs2144323019
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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 RCV001959041 SCV002238768 pathogenic Arrhythmogenic right ventricular dysplasia 10 2021-09-05 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with arrhythmogenic right ventricular cardiomyopathy (PMID: 16773573). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp306*) 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).

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