ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.1271A>G (p.Glu424Gly) (rs1557530247)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692496 SCV000820322 uncertain significance Charcot-Marie-Tooth disease, type 2 2018-02-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 424 of the MFN2 protein (p.Glu424Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Charcot-Marie-Tooth Disease type 2A (PMID: 15549395). 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: "Benign"; 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.
Inherited Neuropathy Consortium RCV000789393 SCV000928748 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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