Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989951 | SCV001140697 | pathogenic | Osteogenesis imperfecta type I | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000989951 | SCV001228677 | pathogenic | Osteogenesis imperfecta type I | 2023-03-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 803438). This premature translational stop signal has been observed in individual(s) with osteogenesis imperfecta type I (PMID: 27509835). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg120*) 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). |
3billion | RCV002250711 | SCV002521213 | 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. Stop-gained (nonsense): 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 at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000803438). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Gene |
RCV003128733 | SCV003805303 | pathogenic | not provided | 2022-08-15 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30715774, 35052464, 27509835) |