ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys) (rs148501787)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536467 SCV000655632 uncertain significance Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 2019-10-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 706 of the MARS protein (p.Arg706Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs148501787, ExAC 0.04%) but has not been reported in the literature in individuals with a MARS-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173432 SCV001336520 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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