Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989949 | SCV001140693 | pathogenic | Osteogenesis imperfecta type I | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000989949 | SCV004366720 | pathogenic | Osteogenesis imperfecta type I | 2023-12-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro313Leufs*228) 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 variant has not been reported in the literature in individuals affected with COL1A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 803436). For these reasons, this variant has been classified as Pathogenic. |