ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.821A>G (p.Gln274Arg) (rs756114856)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460408 SCV000553804 uncertain significance Charcot-Marie-Tooth disease type 2E 2017-01-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 274 of the NEFL protein (p.Gln274Arg). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and arginine. This variant is present in population databases (rs756114856, ExAC 0.002%) but 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class 35"). 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.

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