ClinVar Miner

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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