ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.781A>T (p.Ile261Leu)

dbSNP: rs201927340
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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 RCV000650593 SCV000772440 uncertain significance Combined oxidative phosphorylation defect type 14 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 261 of the FARS2 protein (p.Ile261Leu). This variant is present in population databases (rs201927340, gnomAD 0.006%). 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: 540536). 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 not 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.
Ambry Genetics RCV002531964 SCV003593178 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.781A>T (p.I261L) alteration is located in exon 4 (coding exon 3) of the FARS2 gene. This alteration results from a A to T substitution at nucleotide position 781, causing the isoleucine (I) at amino acid position 261 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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