ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2215C>G (p.Pro739Ala)

dbSNP: rs1282743605
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
Johns Hopkins Genomics, Johns Hopkins University RCV001007586 SCV001167232 uncertain significance Osteogenesis imperfecta type I 2019-10-18 criteria provided, single submitter clinical testing This COL1A1 variant is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. This variant is located within major ligand binding region (MLBR) 2, which includes sites that are important for collagen self-assembly, cleavage, and binding. While glycine substitutions located within an MLBR are commonly reported as damaging, the effect of a proline substitution within one of these regions is unclear. Of three bioinformatics tools queried, two predict that the substitution would be damaging, while the third predicts that it would be tolerated. The proline residue at this position is evolutionarily conserved across all species assessed. Due to insufficient evidence, we consider the clinical significance of c.2215C>G to be uncertain at this time.

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.