Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001944586 | SCV002137116 | uncertain significance | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2022-10-16 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs780400987, gnomAD 0.04%). 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. ClinVar contains an entry for this variant (Variation ID: 1366252). This missense change has been observed in individual(s) with osteogenesis imperfecta (PMID: 23443412). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1313 of the COL1A2 protein (p.Leu1313Pro). |