ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1799del (p.Asp600fs) (rs794729128)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183793 SCV000236274 pathogenic not provided 2014-05-17 criteria provided, single submitter clinical testing The c.1799delA mutation in the PKP2 gene has been reported previously in a cohort of individuals with ARVC (Quarta et al., 2011). This mutation causes a shift in reading frame starting at codon Aspartic acid 600, changing it to a Valine, and creating a premature stop codon at position 56 of the new reading frame, denoted p.Asp600ValfsX56. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift mutations in the PKP2 gene have been reported in association with ARVC. In summary, c.1799delA in the PKP2 gene is interpreted as a disease-causing mutation.

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