ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1112_1114delinsTT (p.Ser371fs) (rs1064796241)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482633 SCV000572767 pathogenic not provided 2017-09-11 criteria provided, single submitter clinical testing Although the c.1112_1114delCTGinsTT pathogenic variant in the PKP2 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon serine 371, changing it to a phenylalanine, and creating a premature stop codon at position 34 of the new reading frame, denoted p.S371FfsX34. This pathogenic variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Many other frameshift variants in the PKP2 gene have been reported in Human Gene Mutation Database in association with ARVC (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.1112_1114delCTGinsTT variant has not been observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, c.1112_1114delCTGinsTT in the PKP2 gene is interpreted as a pathogenic variant.

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