ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.1262T>C (p.Met421Thr)

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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 RCV003084811 SCV003483540 uncertain significance Combined oxidative phosphorylation defect type 14 2022-03-29 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. This variant has not been reported in the literature in individuals affected with FARS2-related conditions. This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 421 of the FARS2 protein (p.Met421Thr). This variant is not present in population databases (gnomAD no frequency).

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