ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.740C>A (p.Pro247Gln)

dbSNP: rs372237191
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237724 SCV002011376 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Invitae RCV001770093 SCV003461559 uncertain significance Exostoses, multiple, type 2 2023-12-14 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 247 of the EXT2 protein (p.Pro247Gln). This variant is present in population databases (rs372237191, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with EXT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 134213). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt EXT2 protein function with a negative predictive value of 80%. 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.
ITMI RCV000120886 SCV000085054 not provided not specified 2013-09-19 no assertion provided reference population

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