ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.907G>A (p.Gly303Ser)

dbSNP: rs1770886046
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001981228 SCV002280802 uncertain significance Combined oxidative phosphorylation defect type 14 2021-08-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with serine at codon 303 of the FARS2 protein (p.Gly303Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. 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 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.
Ambry Genetics RCV003250389 SCV003941514 uncertain significance Inborn genetic diseases 2023-03-27 criteria provided, single submitter clinical testing The c.907G>A (p.G303S) alteration is located in exon 5 (coding exon 4) of the FARS2 gene. This alteration results from a G to A substitution at nucleotide position 907, causing the glycine (G) at amino acid position 303 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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