ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.297G>T (p.Lys99Asn)

dbSNP: rs2127643451
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002042626 SCV002293439 uncertain significance Combined oxidative phosphorylation defect type 14 2021-08-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FARS2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 99 of the FARS2 protein (p.Lys99Asn). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and asparagine. 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.

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