ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1006C>T (p.Gln336Ter)

dbSNP: rs1954414269
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 RCV001204065 SCV001375253 pathogenic Exostoses, multiple, type 2 2023-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln336*) in the EXT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 10679937, 19810120). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hereditary multiple osteochondromatosis (PMID: 19504431). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 935468). For these reasons, this variant has been classified as Pathogenic.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001204065 SCV002061385 pathogenic Exostoses, multiple, type 2 2021-05-12 criteria provided, single submitter clinical testing PVS1, PP1, PM2

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.