Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002241155 | SCV001394966 | likely pathogenic | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2019-07-28 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL1A2 are known to be pathogenic (PMID: 2993307, 3372533, 6092353, 11288717, 15077201, 16816023, 27510842). This variant has been observed in an individual affected with clinical features of osteogenesis imperfecta (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 25 of the COL1A2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
Genome Diagnostics Laboratory, |
RCV002276665 | SCV002564774 | likely pathogenic | Osteogenesis imperfecta | 2019-01-01 | criteria provided, single submitter | clinical testing |