Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000811100 | SCV000951348 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2021-08-13 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with methionine at codon 933 of the DSG2 protein (p.Val933Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs373055076, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 | RCV004994036 | SCV005575805 | uncertain significance | Cardiovascular phenotype | 2024-09-27 | criteria provided, single submitter | clinical testing | The c.2797G>A (p.V933M) alteration is located in exon 15 (coding exon 15) of the DSG2 gene. This alteration results from a G to A substitution at nucleotide position 2797, causing the valine (V) at amino acid position 933 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |