Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000769240 | SCV000900616 | uncertain significance | Cardiomyopathy | 2023-06-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855980 | SCV002145452 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002370029 | SCV002662835 | uncertain significance | Cardiovascular phenotype | 2021-12-13 | criteria provided, single submitter | clinical testing | The p.G2395D variant (also known as c.7184G>A), located in coding exon 24 of the DSP gene, results from a G to A substitution at nucleotide position 7184. The glycine at codon 2395 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |