ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2026-1_2042dup

dbSNP: rs1584325529
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
Paediatric Orthopaedics Research Lab, Christian Medical College RCV000860002 SCV000987184 uncertain significance Osteogenesis imperfecta type III 2018-04-13 criteria provided, single submitter research
Invitae RCV002234889 SCV001210718 pathogenic Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2021-11-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 684739). This variant has been observed in individual(s) with autosomal dominant osteogenesis imperfecta (PMID: 30715774, 31447884, 32770541; Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.2026-1_2042dup, results in the insertion of 6 amino acid(s) of the COL1A2 protein (p.Ala680_Gly685dup), 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.