ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1804A>T (p.Lys602Ter) (rs794729109)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183756 SCV000236237 pathogenic not provided 2014-04-14 criteria provided, single submitter clinical testing p.Lys602Stop (AAG>TAG): c.1804 A>T in exon 8 of the PKP2 gene (NM_004572.3). The K602X mutation in the PKP2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. However, K602X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Furthermore, the K602X mutation was not observed inapproximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Other nonsense mutations in the PKP2 gene have been reported in association with ARVC. In summary, K602X in the PKP2 gene is interpreted as a disease-causing mutation. The variant is found in CARDIOMYOPATHY panel(s).

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