ClinVar Miner

Submissions for variant NM_015271.5(TRIM2):c.512G>C (p.Gly171Ala) (rs1553992552)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545292 SCV000654625 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2R 2017-04-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 144 of the TRIM2 protein (p.Gly144Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. This variant is not present in population databases (ExAC no frequency) and 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: "Benign"; Align-GVGD: "Class C55"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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