Submissions for variant NM_015271.5(TRIM2):c.1144G>T (p.Gly382Cys) (rs760086023)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000809969	SCV000950155	uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2R	2018-10-15	criteria provided, single submitter	clinical testing	This sequence change replaces glycine with cysteine at codon 355 of the TRIM2 protein (p.Gly355Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is present in population databases (rs760086023, ExAC 0.002%). This variant has not been reported in the literature in individuals with TRIM2-related disease. 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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