ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.1199A>G (p.Tyr400Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704549 SCV000833502 uncertain significance Charcot-Marie-Tooth disease type 4 2018-05-08 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 400 of the FIG4 protein (p.Tyr400Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs755232396, ExAC 0.001%). 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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