Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Paediatric Orthopaedics Research Lab, |
RCV000860002 | SCV000987184 | uncertain significance | Osteogenesis imperfecta type III | 2018-04-13 | criteria provided, single submitter | research | |
Invitae | RCV002234889 | SCV001210718 | pathogenic | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2021-11-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 684739). This variant has been observed in individual(s) with autosomal dominant osteogenesis imperfecta (PMID: 30715774, 31447884, 32770541; Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.2026-1_2042dup, results in the insertion of 6 amino acid(s) of the COL1A2 protein (p.Ala680_Gly685dup), but otherwise preserves the integrity of the reading frame. |