Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000802413 | SCV000942244 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345791 | SCV002645674 | uncertain significance | Cardiovascular phenotype | 2022-09-08 | criteria provided, single submitter | clinical testing | The p.R1665T variant (also known as c.4994G>C), located in coding exon 23 of the DSP gene, results from a G to C substitution at nucleotide position 4994. The arginine at codon 1665 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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. |