Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001966836 | SCV002254910 | uncertain significance | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2022-10-23 | 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. ClinVar contains an entry for this variant (Variation ID: 1471557). This variant has not been reported in the literature in individuals affected with COL1A2-related conditions. This variant is present in population databases (rs374901613, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 911 of the COL1A2 protein (p.Ala911Gly). |
| Ambry Genetics | RCV004042178 | SCV005032214 | uncertain significance | Cardiovascular phenotype | 2023-11-21 | criteria provided, single submitter | clinical testing | The p.A911G variant (also known as c.2732C>G), located in coding exon 42 of the COL1A2 gene, results from a C to G substitution at nucleotide position 2732. The alanine at codon 911 is replaced by glycine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |