ClinVar Miner

Submissions for variant NM_015271.5(TRIM2):c.346G>A (p.Val116Met) (rs763365056)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756805 SCV000884721 uncertain significance not provided 2017-11-21 criteria provided, single submitter clinical testing The p.Val89Met variant (rs763365056) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.004 percent (identified on 11 out of 277,236 chromosomes). The valine at position 89 is highly conserved and computational analyses of the effects of the p.Val89Met variant on protein structure and function provide conflicting results (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Val89Met variant with certainty.
Invitae RCV000821208 SCV000961957 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2R 2018-08-21 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 89 of the TRIM2 protein (p.Val89Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs763365056, ExAC 0.003%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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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