ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.467C>T (p.Thr156Met)

gnomAD frequency: 0.00006  dbSNP: rs146988468
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Total submissions: 3
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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 RCV000714948 SCV000845724 likely pathogenic Combined oxidative phosphorylation defect type 14 2018-06-13 criteria provided, single submitter clinical testing
Invitae RCV000714948 SCV001234219 pathogenic Combined oxidative phosphorylation defect type 14 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 156 of the FARS2 protein (p.Thr156Met). This variant is present in population databases (rs146988468, gnomAD 0.06%). This missense change has been observed in individual(s) with early onset epileptic encephalopathy (PMID: 27652284, 33972171). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 587677). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FARS2 protein function. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV003326510 SCV004032657 likely pathogenic not provided 2023-07-01 criteria provided, single submitter clinical testing FARS2: PM3:Strong, PM2

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