Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412245 | SCV000486747 | likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2016-08-02 | criteria provided, single submitter | clinical testing | |
Centogene AG - |
RCV000412245 | SCV001424444 | likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000412245 | SCV003442829 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2023-08-10 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 300 of the IVD protein (p.Ala300Val). This variant is present in population databases (rs796051983, gnomAD 0.006%). This missense change has been observed in individual(s) with isovaleric acidemia (PMID: 25220015, 31707166, 35782626). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.890C>T p.Ala268Val; c.890C >T; p.Ala297Val . ClinVar contains an entry for this variant (Variation ID: 203792). 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. For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000412245 | SCV003831777 | likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2021-11-19 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000412245 | SCV004198024 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2023-07-22 | criteria provided, single submitter | clinical testing |