ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.461C>T (p.Ala154Val) (rs749588235)

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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 RCV000578201 SCV000845710 likely pathogenic Spastic paraplegia 77, autosomal recessive 2018-06-13 criteria provided, single submitter clinical testing
Invitae RCV001246829 SCV001420216 uncertain significance Combined oxidative phosphorylation deficiency 14 2019-11-05 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 154 of the FARS2 protein (p.Ala154Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs749588235, ExAC 0.006%). This variant has been observed in combination with another FARS2 variant in an individual affected with FARS2 deficiency (PMID: 29126765). ClinVar contains an entry for this variant (Variation ID: 488360). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
OMIM RCV000578201 SCV000680038 pathogenic Spastic paraplegia 77, autosomal recessive 2018-01-30 no assertion criteria provided literature only

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