Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001374033 | SCV001570795 | uncertain significance | Combined oxidative phosphorylation defect type 14 | 2021-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with valine at codon 103 of the FARS2 protein (p.Gly103Val). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs752460037, ExAC 0.08%). This variant has not been reported in the literature in individuals affected with FARS2-related conditions. 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 tolerated. 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. |