ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1687A>T (p.Arg563Ter) (rs1057520597)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438071 SCV000516542 pathogenic not provided 2015-04-07 criteria provided, single submitter clinical testing The R563X variant in the PKP2 gene has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. R563X 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 HGMD in association with ARVC (Stenson P et al., 2014). In summary, R563X in the PKP2 gene is interpreted as a pathogenic variant.

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