ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.91G>A (p.Ala31Thr)

dbSNP: rs556195502
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001999401 SCV002278973 uncertain significance Combined oxidative phosphorylation defect type 14 2021-11-17 criteria provided, single submitter clinical testing This variant is present in population databases (rs556195502, gnomAD 0.003%). 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. 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 not expected to disrupt FARS2 protein function. This variant has not been reported in the literature in individuals affected with FARS2-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 31 of the FARS2 protein (p.Ala31Thr).

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