ClinVar Miner

Submissions for variant NM_138395.4(MARS2):c.1775G>A (p.Arg592Gln)

gnomAD frequency: 0.00004  dbSNP: rs377701225
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428016 SCV000516095 likely benign not specified 2015-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001851045 SCV002218690 uncertain significance not provided 2021-12-02 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 379325). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 592 of the MARS2 protein (p.Arg592Gln). This variant is present in population databases (rs377701225, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with MARS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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