ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2014-12C>G

gnomAD frequency: 0.00001  dbSNP: rs990954323
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001192270 SCV001360298 uncertain significance Cardiomyopathy 2023-11-06 criteria provided, single submitter clinical testing This variant causes a C to G nucleotide substitution at the -12 position of intron 10 of the PKP2 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with PKP2-related disorders in the literature. This variant has been identified in 3/251188 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002561003 SCV003515361 likely benign Arrhythmogenic right ventricular dysplasia 9 2024-10-18 criteria provided, single submitter clinical testing

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