ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1165C>G (p.Gln389Glu)

dbSNP: rs1203844985
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207463 SCV001378818 uncertain significance Exostoses, multiple, type 2 2019-09-21 criteria provided, single submitter clinical testing 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. 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with EXT2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with glutamic acid at codon 389 of the EXT2 protein (p.Gln389Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid.

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