ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1593G>C (p.Ala531=)

dbSNP: rs760093803
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002095722 SCV002384935 likely benign Arrhythmogenic right ventricular dysplasia 9 2024-07-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150482 SCV003838847 likely benign Cardiomyopathy 2021-09-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005360 SCV004819154 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045825 SCV005022654 likely benign Cardiovascular phenotype 2023-10-03 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.

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