Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000668842 | SCV000793514 | uncertain significance | Isovaleryl-CoA dehydrogenase deficiency | 2017-08-18 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000668842 | SCV002227355 | uncertain significance | Isovaleryl-CoA dehydrogenase deficiency | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with glutamic acid at codon 149 of the IVD protein (p.Lys149Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with isovaleric acidemia (PMID: 15486829). ClinVar contains an entry for this variant (Variation ID: 553403). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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. |