Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001222058 | SCV001394139 | pathogenic | Osteogenesis imperfecta type I | 2022-02-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly1250Alafs*81) 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 (PMID: 29150909). ClinVar contains an entry for this variant (Variation ID: 950365). For these reasons, this variant has been classified as Pathogenic. |