ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1664del (p.Phe555fs) (rs794729127)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183790 SCV000236271 pathogenic not provided 2013-04-15 criteria provided, single submitter clinical testing Although the c.1664delT mutation in the PKP2 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Phenylalanine 555, changing it to a Serine, and creating a premature stop codon at position 8 of the new reading frame, denoted p.Phe555SerfsX8. 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.
Invitae RCV000699079 SCV000827774 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe555Serfs*8) in the PKP2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant was shown to segregate with disease in a family with arrhythmogenic right ventricular cardiomyopathy (PMID: 26701096). ClinVar contains an entry for this variant (Variation ID: 202019). Loss-of-function variants in PKP2 are known to be pathogenic (PMID: 15489853, 23911551). For these reasons, this variant has been classified as Pathogenic.

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