ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1672C>T (p.Gln558Ter)

dbSNP: rs1375012922
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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 RCV001389641 SCV001591074 pathogenic Arrhythmogenic right ventricular dysplasia 10 2021-05-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln558*) 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: 23381804, 23911551). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with right ventricular cardiomyopathy (PMID: 16505173). ClinVar contains an entry for this variant (Variation ID: 1075931). This variant is not present in population databases (ExAC no frequency).

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