ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.951del (p.His318fs)

dbSNP: rs1555148048
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000640023 SCV000761610 pathogenic Arrhythmogenic right ventricular dysplasia 9 2023-07-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His318Thrfs*2) 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). 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. ClinVar contains an entry for this variant (Variation ID: 533041). For these reasons, this variant has been classified as Pathogenic.
Genomics England Pilot Project, Genomics England RCV000640023 SCV001760303 likely pathogenic Arrhythmogenic right ventricular dysplasia 9 no assertion criteria provided clinical testing

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