ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1379-2112_1379-2099del

dbSNP: rs1956617072
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189700 SCV001357047 uncertain significance Cardiomyopathy 2020-03-20 criteria provided, single submitter clinical testing This variant causes a deletion of fourteen nucleotides in intron 5 and exon 6 junction of the PKP2 transcript (NM_004572.3). Splice site prediction tools suggest that this variant may impact RNA splicing and cause aberrant splicing of exon 6. Of note, exon 6 of the PKP2 transcript (NM_004572.3) is naturally spliced out and is absent in the predominant isoform (NM_001005242) expressed in the heart (PMID: 21378009). To our knowledge, transcriptional studies have not been reported for this variant, and the functional impact of this variant is unknown. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified 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.

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