Submissions for variant NM_014845.5(FIG4):c.301T>C (p.Phe101Leu) (rs1209947403)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000696526	SCV000825090	uncertain significance	Charcot-Marie-Tooth disease type 4	2018-06-15	criteria provided, single submitter	clinical testing	This sequence change replaces phenylalanine with leucine at codon 101 of the FIG4 protein (p.Phe101Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. 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 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, 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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