ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.1340T>C (p.Val447Ala) (rs1045761358)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000640662 SCV000762257 uncertain significance Charcot-Marie-Tooth disease type 2E 2019-12-28 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 447 of the NEFL protein (p.Val447Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. 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. ClinVar contains an entry for this variant (Variation ID: 533512). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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