Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001341374 | SCV001535245 | uncertain significance | Arrhythmogenic right ventricular dysplasia 11 | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 876 of the DSC2 protein (p.Gln876Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1038106). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
Ambry Genetics | RCV004619645 | SCV005114969 | uncertain significance | Cardiovascular phenotype | 2024-03-27 | criteria provided, single submitter | clinical testing | The p.Q876L variant (also known as c.2627A>T), located in coding exon 16 of the DSC2 gene, results from an A to T substitution at nucleotide position 2627. The glutamine at codon 876 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |