ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1667del (p.Pro556fs)

dbSNP: rs1351742344
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001931651 SCV002203117 pathogenic Osteogenesis imperfecta type I 2024-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro556Leufs*24) in the COL1A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL1A1 are known to be pathogenic (PMID: 7942841, 9295084, 9443882). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with osteogenesis imperfecta types I and IV (PMID: 26627451, 28725987). ClinVar contains an entry for this variant (Variation ID: 1431093). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001931651 SCV002577543 pathogenic Osteogenesis imperfecta type I 2021-01-13 criteria provided, single submitter clinical testing PVS1, PM2, PP3
Fulgent Genetics, Fulgent Genetics RCV002503654 SCV002813597 pathogenic Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 2022-03-16 criteria provided, single submitter clinical testing

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.