Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002027069 | SCV002312862 | uncertain significance | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2021-10-25 | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL1A2 protein function. This missense change has been observed in individual(s) with Ehlers-Danlos syndrome (Invitae). This variant is present in population databases (rs780850548, ExAC 0.001%). This sequence change replaces proline with arginine at codon 102 of the COL1A2 protein (p.Pro102Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. |