ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.983C>A (p.Ala328Glu) (rs768190580)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559816 SCV000639668 uncertain significance Charcot-Marie-Tooth disease type 2E 2017-05-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 328 of the NEFL protein (p.Ala328Glu). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and glutamine. This variant is present in population databases (rs768190580, ExAC 0.006%). This variant 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: "Possibly damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on NEFL function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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