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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