ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.390C>G (p.Tyr130Ter) (rs763303290)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579342 SCV000680558 pathogenic not provided 2017-12-07 criteria provided, single submitter clinical testing The Y130X variant in the PKP2 gene has been reported in a patient with ARVC (Orgeron et al., 2017). This variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the PKP2 gene have been reported in Human Gene Mutation Database in association with ARVC (Stenson et al., 2014). Furthermore, the Y130X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016).
Invitae RCV000805693 SCV000945659 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-07-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr130*) in the PKP2 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 PKP2-related disease. ClinVar contains an entry for this variant (Variation ID: 488711). Loss-of-function variants in PKP2 are known to be pathogenic (PMID: 15489853, 23911551). For these reasons, this variant has been classified as Pathogenic.

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