ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly)

dbSNP: rs770597592
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000714944 SCV000845717 uncertain significance Combined oxidative phosphorylation defect type 14 2018-06-13 criteria provided, single submitter clinical testing
Invitae RCV000714944 SCV003439303 likely pathogenic Combined oxidative phosphorylation defect type 14 2022-06-27 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 587673). This missense change has been observed in individual(s) with early infantile-encephalopathy with epilepsy (PMID: 27549011). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 386 of the FARS2 protein (p.Arg386Gly).

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