ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.925G>A (p.Gly309Ser) (rs746746116)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000714943 SCV000845713 likely pathogenic Combined oxidative phosphorylation deficiency 14 2018-06-13 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092144 SCV001248521 pathogenic not provided 2019-09-01 criteria provided, single submitter clinical testing
Invitae RCV000714943 SCV001582544 pathogenic Combined oxidative phosphorylation deficiency 14 2020-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 309 of the FARS2 protein (p.Gly309Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with FARS2-related conditions (PMID: 30177229, 28419689). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 587672). 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. Experimental studies have shown that this variant affects FARS2 protein function (PMID: 28419689). For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.