ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.52T>C (p.Tyr18His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062258 SCV001227044 uncertain significance Charcot-Marie-Tooth disease type 4 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 18 of the FIG4 protein (p.Tyr18His). The tyrosine residue is moderately conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FIG4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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