Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000578201 | SCV000845710 | likely pathogenic | Hereditary spastic paraplegia 77 | 2018-06-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001246829 | SCV001420216 | uncertain significance | Combined oxidative phosphorylation defect type 14 | 2022-07-26 | 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 154 of the FARS2 protein (p.Ala154Val). This variant is present in population databases (rs749588235, gnomAD 0.004%). This missense change has been observed in individual(s) with FARS2 deficiency (PMID: 29126765). ClinVar contains an entry for this variant (Variation ID: 488360). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FARS2 protein function. 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. |
Baylor Genetics | RCV001246829 | SCV003835355 | uncertain significance | Combined oxidative phosphorylation defect type 14 | 2022-09-02 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000578201 | SCV000680038 | pathogenic | Hereditary spastic paraplegia 77 | 2018-01-30 | no assertion criteria provided | literature only |