Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001338389 | SCV001532050 | uncertain significance | Arrhythmogenic right ventricular dysplasia 11 | 2021-10-28 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 271 of the DSC2 protein (p.Asp271Val). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1035511). |
| Ai |
RCV002224066 | SCV002503219 | uncertain significance | not provided | 2021-12-28 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003169594 | SCV003853622 | uncertain significance | Cardiovascular phenotype | 2023-01-19 | criteria provided, single submitter | clinical testing | The p.D271V variant (also known as c.812A>T), located in coding exon 7 of the DSC2 gene, results from an A to T substitution at nucleotide position 812. The aspartic acid at codon 271 is replaced by valine, an amino acid with highly dissimilar 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. |