ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1840-10G>C

gnomAD frequency: 0.00001  dbSNP: rs768000598
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001494693 SCV001699355 likely benign Arrhythmogenic right ventricular dysplasia 9 2024-05-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001525183 SCV001735225 uncertain significance Cardiomyopathy 2023-02-16 criteria provided, single submitter clinical testing This variant causes a G to C nucleotide substitution at the -10 position of intron 9 of the PKP2 gene. Splice prediction tools and conservation analysis are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/251210 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV004007188 SCV004831330 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-09-23 criteria provided, single submitter clinical testing

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