Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002242190 | SCV001531474 | uncertain significance | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2020-02-28 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with COL1A2-related conditions. This variant is present in population databases (rs760780128, ExAC 0.007%). This sequence change replaces proline with serine at codon 963 of the COL1A2 protein (p.Pro963Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. |