ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2457G>A (p.Lys819=)

gnomAD frequency: 0.00001  dbSNP: rs777477467
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773292 SCV000906984 likely benign Cardiomyopathy 2018-10-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001453377 SCV001657068 likely benign Arrhythmogenic right ventricular dysplasia 9 2018-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424427 SCV002742175 likely benign Cardiovascular phenotype 2018-05-31 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.
GeneDx RCV003226961 SCV003923748 uncertain significance not provided 2022-11-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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