ClinVar Miner

Submissions for variant NM_015271.5(TRIM2):c.916G>C (p.Glu306Gln) (rs750001904)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513481 SCV000609149 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV001218927 SCV001390836 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2R 2019-08-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 279 of the TRIM2 protein (p.Glu279Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs750001904, ExAC 0.003%). This variant has not been reported in the literature in individuals with TRIM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 444643). 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: "Tolerated"; 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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