ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2274del (p.Asn759fs) (rs794729130)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183797 SCV000236278 likely pathogenic not provided 2016-04-19 criteria provided, single submitter clinical testing The c.2274delG likely pathogenic variant in the PKP2 gene has not been reported as a pathogenic variant or a benign varaint to our knowledge. The c.2274delG variant causes a shift in reading frame starting at codon Asparagine 759, changing it to an Isoleucine, and creating a premature stop codon at position 41 of the new reading frame, denoted p.N759IfsX41. This variant 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 variants in the PKP2 gene have been reported in HGMD in association with ARVC (Stenson et al., 2014).

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