ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1139del (p.Glu380fs) (rs1592758957)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008612 SCV001168385 likely pathogenic not provided 2019-02-27 criteria provided, single submitter clinical testing Although the c.1139delA likely pathogenic variant in the PKP2 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon glutamic acid 380, changing it to a glycine, and creating a premature stop codon at position 25 of the new reading frame, denoted p.Glu380GlyfsX25. This likely 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. 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.1139delA variant has not been observed in large population cohorts (Lek et al., 2016).

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