ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1362del (p.Lys456fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004015375 SCV004828608 pathogenic Arrhythmogenic right ventricular cardiomyopathy 2023-09-18 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 5 of the PKP2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with PKP2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of PKP2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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