ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1417+1G>T

dbSNP: rs1586997796
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 RCV001048523 SCV001212534 pathogenic Multiple congenital exostosis 2019-05-10 criteria provided, single submitter clinical testing Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 19810120). For these reasons, this variant has been classified as Pathogenic. Disruption of this splice site has been observed in individuals affected with multiple osteochondromas (PMID: 19810120, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 5 of the EXT1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
GeneDx RCV002509597 SCV002818873 pathogenic not provided 2023-01-04 criteria provided, single submitter clinical testing Reported in a patient with multiple osteochondromas in published literature (Jennes et al., 2009); Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 19810120)

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.