Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000685445 | SCV000812927 | uncertain significance | Multiple acyl-CoA dehydrogenase deficiency | 2020-02-29 | criteria provided, single submitter | clinical testing | 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been reported in individuals affected with clinical features of glutaric aciduria type II (PMID: 24516753, Invitae). ClinVar contains an entry for this variant (Variation ID: 565800). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with histidine at codon 269 of the ETFDH protein (p.Gln269His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. |
| Natera, |
RCV001829892 | SCV002084855 | uncertain significance | Glutaric acidemia type 2C | 2021-06-23 | no assertion criteria provided | clinical testing |