ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.12del (p.Gly5fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018334 SCV004847963 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2016-05-06 criteria provided, single submitter clinical testing The p.Gly5fs (c.12delC) variant in PKP2 has not been previously reported, although the p.Gly5fs (c.14delG) variant has been identified in one individual with ARVC (LMM unpublished data). Data from large population studies is insufficient to assess the frequency of this variant. This frameshift variant is predicted to alter the protein’s amino acid sequence beginning at position 5 and lead to a premature termination codon 34 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of PKP2 function is an established disease mechanism in individuals with ARVC. In summary, although additional studies are required to fully establish its clinical significance, the p.Gly5fs variant is likely pathogenic.

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