ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.461C>T (p.Ala154Val)

gnomAD frequency: 0.00004  dbSNP: rs749588235
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Total submissions: 4
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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 RCV000578201 SCV000845710 likely pathogenic Hereditary spastic paraplegia 77 2018-06-13 criteria provided, single submitter clinical testing
Invitae RCV001246829 SCV001420216 uncertain significance Combined oxidative phosphorylation defect type 14 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 154 of the FARS2 protein (p.Ala154Val). This variant is present in population databases (rs749588235, gnomAD 0.004%). This missense change has been observed in individual(s) with FARS2 deficiency (PMID: 29126765). ClinVar contains an entry for this variant (Variation ID: 488360). 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 expected to disrupt FARS2 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.
Baylor Genetics RCV001246829 SCV003835355 uncertain significance Combined oxidative phosphorylation defect type 14 2022-09-02 criteria provided, single submitter clinical testing
OMIM RCV000578201 SCV000680038 pathogenic Hereditary spastic paraplegia 77 2018-01-30 no assertion criteria provided literature only

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