Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001982827 | SCV002219208 | pathogenic | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2022-10-25 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly91*) in the COL1A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL1A2 are known to be pathogenic (PMID: 11288717, 15077201). This variant has not been reported in the literature in individuals affected with COL1A2-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1445261). |