Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000634870 | SCV000756224 | uncertain significance | Isovaleryl-CoA dehydrogenase deficiency | 2022-02-10 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 418 of the IVD protein (p.Gly418Ser). This variant is present in population databases (rs150855952, gnomAD 0.01%). This missense change has been observed in individual(s) with a positive newborn screening result for IVD-related disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 203784). 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. 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. |
Natera, |
RCV000634870 | SCV002094420 | uncertain significance | Isovaleryl-CoA dehydrogenase deficiency | 2019-01-22 | no assertion criteria provided | clinical testing |