ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.1612G>A (p.Ala538Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046141 SCV001210030 uncertain significance Charcot-Marie-Tooth disease type 2E 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 538 of the NEFL protein (p.Ala538Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs779888473, ExAC 0.01%). 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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