ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.921T>C (p.Ser307=)

gnomAD frequency: 0.00001  dbSNP: rs941328238
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001111788 SCV001269387 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Color Diagnostics, LLC DBA Color Health RCV001175983 SCV001339796 likely benign Cardiomyopathy 2019-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001111788 SCV001638682 likely benign Arrhythmogenic right ventricular dysplasia 9 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002375024 SCV002688163 likely benign Cardiovascular phenotype 2019-07-23 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 RCV004000243 SCV004846470 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-11-30 criteria provided, single submitter clinical testing

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