ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1767T>G (p.Tyr589Ter) (rs794729108)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183755 SCV000236236 pathogenic not provided 2017-06-23 criteria provided, single submitter clinical testing The Y589X nonsense variant in the PKP2 gene has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. Y589X 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 association with ARVC. Based on the available evidence, we consider Y589X to be a pathogenic variant.

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