Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001246878 | SCV001420270 | uncertain significance | Combined malonic and methylmalonic acidemia | 2021-08-13 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with tryptophan at codon 354 of the ACSF3 protein (p.Arg354Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs761084443, ExAC 0.008%). This variant has not been reported in the literature in individuals affected with ACSF3-related conditions. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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, |
RCV001246878 | SCV002092420 | uncertain significance | Combined malonic and methylmalonic acidemia | 2021-03-30 | no assertion criteria provided | clinical testing |