ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.103G>T (p.Glu35Ter)

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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 RCV005199910 SCV005845079 pathogenic Arrhythmogenic right ventricular dysplasia 9 2024-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu35*) 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, 17041889, 23911551). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PKP2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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