ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.4G>T (p.Val2Leu)

gnomAD frequency: 0.00001  dbSNP: rs759961408
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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 RCV001068257 SCV001233356 uncertain significance Combined oxidative phosphorylation defect type 14 2022-09-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FARS2-related conditions. 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. ClinVar contains an entry for this variant (Variation ID: 861687). This variant is present in population databases (rs759961408, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2 of the FARS2 protein (p.Val2Leu).

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