ClinVar Miner

Submissions for variant NM_001136473.1(LITAF):c.340C>G (p.Leu114Val) (rs1567235442)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706761 SCV000835830 uncertain significance Charcot-Marie-Tooth disease, type 1C 2018-04-23 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 114 of the LITAF protein (p.Leu114Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine 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 LITAF-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: "Tolerated"; PolyPhen-2: "Probably 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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