ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1230C>T (p.Asp410=)

gnomAD frequency: 0.00006  dbSNP: rs148364390
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426436 SCV000514127 benign not specified 2015-05-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000534693 SCV000638860 likely benign Arrhythmogenic right ventricular dysplasia 9 2024-01-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777834 SCV000913833 benign Cardiomyopathy 2018-10-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000426436 SCV001737834 likely benign not specified 2021-05-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726161 SCV001961351 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing PKP2: BP4, BP7
Ambry Genetics RCV002365474 SCV002661783 likely benign Cardiovascular phenotype 2019-07-10 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 RCV003995975 SCV004846418 benign Arrhythmogenic right ventricular cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing

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