Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
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. |