Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001922273 | SCV002155310 | uncertain significance | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2023-09-28 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1382694). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 1236 of the COL1A2 protein (p.Ser1236Gly). This variant is present in population databases (rs781184808, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of COL1A2-related conditions (PMID: 35723357). 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. 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. |