ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.155T>C (p.Ile52Thr) (rs754533235)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792093 SCV000931367 uncertain significance Charcot-Marie-Tooth disease type 4 2018-09-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 52 of the FIG4 protein (p.Ile52Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs754533235, ExAC 0.006%). This variant has not been reported in the literature in individuals with FIG4-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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