Submissions for variant NM_014874.3(MFN2):c.1118G>A (p.Arg373Gln) (rs142042485)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000535795	SCV000657710	uncertain significance	Charcot-Marie-Tooth disease, type 2	2017-02-23	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with glutamine at codon 373 of the MFN2 protein (p.Arg373Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs142042485, ExAC 0.02%) but has not been reported in the literature in individuals with a MFN2-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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but 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	RCV001172685	SCV001335751	uncertain significance	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing

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