ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.257dup (p.Tyr86Ter) (rs1555148271)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522421 SCV000621038 pathogenic not provided 2017-10-05 criteria provided, single submitter clinical testing Although the c.257dupA (Y86X) variant in the PKP2 gene has not been reported as a pathogenic or benign to our knowledge, this variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay, in a gene for which loss-of-function is a known mechanism of disease. Though data from control individuals in publicly available databases is not available to assess the frequency of c.257dupA in the general population, a missense variant (c.258 T>G) in the PKP2 gene resulting in the same amino acid change (Y86X) is absent from large population cohorts (Lek et al., 2016), and is classified as pathogenic by GeneDx. Additionally, multiple other downstream nonsense variants in the PKP2 gene have been reported in the Human Gene Mutation Database in association with ARVC (Stenson et al., 2014).

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