Submissions for variant NM_015271.5(TRIM2):c.2215C>T (p.Pro739Ser) (rs199912457)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000809448	SCV000949599	uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2R	2019-08-08	criteria provided, single submitter	clinical testing	This sequence change replaces proline with serine at codon 712 of the TRIM2 protein (p.Pro712Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs199912457, ExAC 0.1%). 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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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