ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.332C>T (p.Ser111Leu)

gnomAD frequency: 0.00003  dbSNP: rs369145259
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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 RCV000714914 SCV000845672 uncertain significance Combined oxidative phosphorylation defect type 14 2018-06-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000714914 SCV001539722 uncertain significance Combined oxidative phosphorylation defect type 14 2025-01-23 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 111 of the FARS2 protein (p.Ser111Leu). This variant is present in population databases (rs369145259, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 587650). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt FARS2 protein function with a positive predictive value of 95%. 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.
GeneDx RCV004588158 SCV005079677 uncertain significance not provided 2024-07-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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