Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000802687 | SCV000942529 | uncertain significance | Isovaleryl-CoA dehydrogenase deficiency | 2021-07-14 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glycine at codon 53 of the IVD protein (p.Arg53Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs34695403, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with IVD-related conditions. 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. This variant disrupts the p.Arg53 amino acid residue in IVD. Other variant(s) that disrupt this residue have been observed in individuals with IVD-related conditions (PMID: 10677295, 15486829, 17576084), which suggests that this may be a clinically significant amino acid residue. 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. |
| Fulgent Genetics, |
RCV000802687 | SCV002784593 | uncertain significance | Isovaleryl-CoA dehydrogenase deficiency | 2021-09-22 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV000802687 | SCV001460256 | uncertain significance | Isovaleryl-CoA dehydrogenase deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |