Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001058870 | SCV001223467 | pathogenic | Osteogenesis imperfecta type I | 2021-08-26 | criteria provided, single submitter | clinical testing | |
3billion | RCV002250721 | SCV002521280 | pathogenic | Osteogenesis imperfecta type III | 2022-05-22 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with COL1A1 related disorder (ClinVar ID: VCV000853946 / PMID: 23529829). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Prevention |
RCV003393828 | SCV004119688 | pathogenic | COL1A1-related condition | 2022-11-11 | criteria provided, single submitter | clinical testing | The COL1A1 c.2084delG variant is predicted to result in a frameshift and premature protein termination (p.Gly695Valfs*71). This variant was reported to be pathogenic for osteogenesis imperfecta (Table S1, Ben Amor et al 2013. PubMed ID: 23529829). In ClinVar, this variant is also interpreted as pathogenic (https://preview.ncbi.nlm.nih.gov/clinvar/variation/853946/). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in COL1A1 are expected to be pathogenic. This variant is interpreted as pathogenic. |