ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1771T>C (p.Ser591Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002953883 SCV003274525 uncertain significance Exostoses, multiple, type 2 2022-07-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with EXT2-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant is present in population databases (rs370187162, gnomAD 0.0008%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 591 of the EXT2 protein (p.Ser591Pro).

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