ClinVar Miner

Submissions for variant NM_001136473.1(LITAF):c.*49G>A (rs144232569)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706957 SCV000836032 uncertain significance Charcot-Marie-Tooth disease, type 1C 2018-11-13 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 137 of the LITAF protein (p.Cys137Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs144232569, ExAC 0.01%). 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: "Deleterious"; 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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