ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.666C>G (p.Tyr222Ter)

dbSNP: rs121918281
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005041972 SCV005683543 pathogenic Exostoses, multiple, type 2; Seizures-scoliosis-macrocephaly syndrome 2024-01-08 criteria provided, single submitter clinical testing
OMIM RCV000002579 SCV000022737 pathogenic Exostoses, multiple, type 2 1997-09-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003894785 SCV004711505 pathogenic EXT2-related disorder 2023-11-27 no assertion criteria provided clinical testing The EXT2 c.666C>G variant is predicted to result in premature protein termination (p.Tyr222*). This variant has been reported in several affected members of a family with hereditary multiple osteochondromas (Family 2, Philippe et al. 1997. PubMed ID: 9326317), and also in an individual from an unrelated family with hereditary multiple osteochondromas (Li et al. 2018. PubMed ID: 30334991. This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in EXT2 are expected to be pathogenic. This variant is interpreted as pathogenic.

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.