ClinVar Miner

Submissions for variant NM_015271.5(TRIM2):c.677G>A (p.Ser226Asn) (rs143032564)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704675 SCV000833633 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2R 2018-05-14 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 199 of the TRIM2 protein (p.Ser199Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs143032564, ExAC 0.001%). 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 C45"). 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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