Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000820796 | SCV000961524 | pathogenic | Osteogenesis imperfecta type I | 2022-01-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr1039Aspfs*27) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 663020). This variant has not been reported in the literature in individuals affected with COL1A1-related conditions. |