Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001223346 | SCV001395490 | uncertain significance | Osteogenesis imperfecta type I | 2019-05-06 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with proline at codon 12 of the COL1A1 protein (p.Leu12Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the p.Leu12 amino acid residue in COL1A1. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been observed in an individual with clinical features of osteogenesis imperfecta (Invitae). This variant is not present in population databases (ExAC no frequency). |