ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.706G>A (p.Val236Met)

gnomAD frequency: 0.00003  dbSNP: rs369015058
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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 RCV000714923 SCV000845688 uncertain significance Combined oxidative phosphorylation defect type 14 2018-06-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000714923 SCV001399978 uncertain significance Combined oxidative phosphorylation defect type 14 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 236 of the FARS2 protein (p.Val236Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs369015058, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with FARS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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