ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.863A>G (p.Asn288Ser)

gnomAD frequency: 0.00001  dbSNP: rs745738318
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001263554 SCV004378501 likely pathogenic Exostoses, multiple, type 2 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 288 of the EXT2 protein (p.Asn288Ser). This variant is present in population databases (rs745738318, gnomAD 0.006%). This missense change has been observed in individual(s) with hereditary multiple osteochondromas (PMID: 30806661). ClinVar contains an entry for this variant (Variation ID: 983551). 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV001263554 SCV001441615 pathogenic Exostoses, multiple, type 2 2020-11-06 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.