ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.1544T>C (p.Ile515Thr) (rs370249754)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204035 SCV000260544 uncertain significance Charcot-Marie-Tooth disease type 4 2018-08-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 515 of the FIG4 protein (p.Ile515Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs370249754, ExAC 0.01%). This variant has not been reported in the literature in individuals with FIG4-related disease. ClinVar contains an entry for this variant (Variation ID: 220189). 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 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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