ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.1357G>A (p.Glu453Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055974 SCV001220389 uncertain significance Charcot-Marie-Tooth disease type 2E 2020-01-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 453 of the NEFL protein (p.Glu453Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. 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 conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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