Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001189246 | SCV001356502 | likely benign | Cardiomyopathy | 2020-06-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001403218 | SCV001605082 | likely benign | Arrhythmogenic right ventricular dysplasia 11 | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429833 | SCV002740619 | uncertain significance | Cardiovascular phenotype | 2019-04-22 | criteria provided, single submitter | clinical testing | The p.H849P variant (also known as c.2546A>C), located in coding exon 16 of the DSC2 gene, results from an A to C substitution at nucleotide position 2546. The histidine at codon 849 is replaced by proline, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and proline is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |