ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.692_694del (p.Asp231del)

dbSNP: rs1817873196
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 RCV001060530 SCV001225224 uncertain significance Multiple congenital exostosis 2023-01-07 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the p.Asp231 amino acid residue in EXT1. Other variant(s) that disrupt this residue have been observed in individuals with EXT1-related conditions (PMID: 23439489), which suggests that this may be a clinically significant amino acid residue. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 855294). This variant has been observed in individual(s) with multiple exostoses (Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.692_694del, results in the deletion of 1 amino acid(s) of the EXT1 protein (p.Asp231del), but otherwise preserves the integrity of the reading frame.

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.