ClinVar Miner

Submissions for variant NM_138395.4(MARS2):c.494A>G (p.Tyr165Cys)

dbSNP: rs756596155
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334516 SCV001527381 uncertain significance Combined oxidative phosphorylation defect type 25 2018-10-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV003727984 SCV004520312 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MARS2-related conditions. This variant is present in population databases (rs756596155, gnomAD 0.0009%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 165 of the MARS2 protein (p.Tyr165Cys). ClinVar contains an entry for this variant (Variation ID: 1032416). 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. 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 MARS2 protein function.

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