ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1079+1G>A

dbSNP: rs1369420640
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689685 SCV000817348 pathogenic Exostoses, multiple, type 2 2018-06-19 criteria provided, single submitter clinical testing This variant has been observed in individuals with multiple osteochondromas (PMID: 29529714, 25468659, 19810120). This variant is also known as c.1178+1G>A in the literature. For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EXT2 are known to be pathogenic (PMID: 19810120). A different variant affecting this nucleotide (c.1079+1G>C) has been determined to be pathogenic (PMID: 11170095). This suggests that this nucleotide is important for normal RNA splicing, and that other variants at this position may also be pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 6 of the EXT2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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.