Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079993 | SCV000111884 | uncertain significance | not provided | 2013-07-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000534930 | SCV000631879 | uncertain significance | Isovaleryl-CoA dehydrogenase deficiency | 2022-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 340 of the IVD protein (p.Arg340Gln). This variant is present in population databases (rs139908696, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with IVD-related conditions. ClinVar contains an entry for this variant (Variation ID: 94049). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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, |
RCV000534930 | SCV002094411 | uncertain significance | Isovaleryl-CoA dehydrogenase deficiency | 2017-04-21 | no assertion criteria provided | clinical testing |