ClinVar Miner

Submissions for variant NM_015271.5(TRIM2):c.561G>T (p.Gln187His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210943 SCV001382459 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2R 2019-09-22 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 160 of the TRIM2 protein (p.Gln160His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs752837955, ExAC 0.02%). This variant has not been reported in the literature in individuals with TRIM2-related conditions. 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 C15"). 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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