Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000208078 | SCV000263874 | uncertain significance | Left ventricular noncompaction cardiomyopathy | 2015-12-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001347430 | SCV001541689 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-12-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336577 | SCV002634745 | uncertain significance | Cardiovascular phenotype | 2021-04-30 | criteria provided, single submitter | clinical testing | The p.R1603K variant (also known as c.4808G>A), located in coding exon 23 of the DSP gene, results from a G to A substitution at nucleotide position 4808. The arginine at codon 1603 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and lysine 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. |