ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.2138G>A (p.Arg713Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049683 SCV001213749 uncertain significance Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 2019-01-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 713 of the MARS protein (p.Arg713Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs200011880, ExAC 0.02%). This variant has not been reported in the literature in individuals with MARS-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: "Tolerated"; PolyPhen-2: "Possibly 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.

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