ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.1752T>A (p.Asp584Glu) (rs1060501402)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471473 SCV000546068 uncertain significance Charcot-Marie-Tooth disease type 4 2016-04-29 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 584 of the FIG4 protein (p.Asp584Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. 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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