ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1147C>T (p.Gln383Ter) (rs1057520650)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418007 SCV000516758 pathogenic not provided 2015-05-04 criteria provided, single submitter clinical testing The Q383X variant in the PKP2 gene has not been reported as a pathogenic variant or as a benignpolymorphism to our knowledge. Q383X 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, Q383X in the PKP2 gene is interpreted as a pathogenic variant.

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