ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1379-2008G>A

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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 RCV003532776 SCV004358883 likely benign Cardiomyopathy 2022-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004371473 SCV005022651 uncertain significance Cardiovascular phenotype 2024-01-10 criteria provided, single submitter clinical testing The c.1479G>A variant (also known as p.R493R), located in coding exon 6 of the PKP2 gene, results from a G to A substitution at nucleotide position 1479. This nucleotide substitution does not change the arginine at codon 493. This nucleotide position is conserved on limited sequence alignment. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site. However, coding exon 6 is alternatively spliced, and the predominant isoform in human cardiac tissue, PKP2A, does not include this exon (Gandjbakhch E et al. Heart. 2011;97(10):844-9). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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