ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.517C>T (p.Gln173Ter)

dbSNP: rs794729103
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003508862 SCV004295876 pathogenic Arrhythmogenic right ventricular dysplasia 9 2023-07-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of PKP2-related conditions (PMID: 25820315). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln173*) in the PKP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKP2 are known to be pathogenic (PMID: 15489853, 23911551).

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