Submissions for variant NM_015271.5(TRIM2):c.1673G>A (p.Gly558Glu) (rs1305793582)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000555984	SCV000654617	uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2R	2017-05-24	criteria provided, single submitter	clinical testing	This sequence change replaces glycine with glutamic acid at codon 531 of the TRIM2 protein (p.Gly531Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a TRIM2-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 has uncertain impact on TRIM2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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