ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.486G>A (p.Thr162=)

gnomAD frequency: 0.00006  dbSNP: rs189040311
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465951 SCV000557339 likely benign Arrhythmogenic right ventricular dysplasia 9 2025-01-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001185789 SCV001352084 likely benign Cardiomyopathy 2019-06-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341085 SCV002635582 likely benign Cardiovascular phenotype 2021-02-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV004002124 SCV004846522 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705605 SCV005216621 likely benign not provided criteria provided, single submitter not provided

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