ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.176A>T (p.Gln59Leu)

gnomAD frequency: 0.00016  dbSNP: rs730880179
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002484962 SCV002778912 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2021-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002484962 SCV003441069 likely benign Arrhythmogenic right ventricular dysplasia 9 2023-05-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004806100 SCV005429534 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2024-04-16 criteria provided, single submitter clinical testing This missense variant replaces glutamine with leucine at codon 59 of the PKP2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function. This variant has been reported to occur in 0.3% of the Finnish population (PMID: 21397041) and claimed to be a founder mutation in that population. This variant has been identified in 21/246924 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Blueprint Genetics RCV000157408 SCV000207147 uncertain significance AV junctional rhythm; Ventricular tachycardia 2014-08-22 no assertion criteria provided clinical testing

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