Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001981582 | SCV002222564 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2022-07-30 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 517 of the DSG2 protein (p.Ala517Ser). 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: 1444015). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. |
| Ambry Genetics | RCV002397989 | SCV002707432 | uncertain significance | Cardiovascular phenotype | 2020-02-27 | criteria provided, single submitter | clinical testing | The p.A517S variant (also known as c.1549G>T), located in coding exon 11 of the DSG2 gene, results from a G to T substitution at nucleotide position 1549. The alanine at codon 517 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |