ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.797A>G (p.Glu266Gly) (rs1367433683)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530689 SCV000639666 uncertain significance Charcot-Marie-Tooth disease type 2E 2017-05-09 criteria provided, single submitter clinical testing This sequence change replaces glutamate with glycine at codon 266 of the NEFL protein (p.Glu266Gly). The glutamate residue is highly conserved and there is a moderate physicochemical difference between glutamate and glycine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NEFL-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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