Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001235657 | SCV001408351 | pathogenic | Osteogenesis imperfecta type I | 2022-08-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg131*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 961895). This premature translational stop signal has been observed in individuals with osteogenesis imperfecta (PMID: 26627451, 27132807, 27335225). This variant is not present in population databases (gnomAD no frequency). |