ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.974G>C (p.Arg325Thr) (rs1060501400)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471929 SCV000546065 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with threonine at codon 325 of the FIG4 protein (p.Arg325Thr). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and threonine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a 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 C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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