ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.637A>G (p.Ile213Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800798 SCV000940533 uncertain significance Charcot-Marie-Tooth disease type 2E 2018-12-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 213 of the NEFL protein (p.Ile213Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NEFL-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, Align-GVGD) suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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