Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002314288 | SCV000738733 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-03-29 | criteria provided, single submitter | clinical testing | The p.G1113V variant (also known as c.3338G>T), located in coding exon 47 of the COL5A2 gene, results from a G to T substitution at nucleotide position 3338. The glycine at codon 1113 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV003758890 | SCV004537311 | uncertain significance | Ehlers-Danlos syndrome, classic type, 1 | 2023-07-27 | 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 expected to disrupt COL5A2 protein function. ClinVar contains an entry for this variant (Variation ID: 519684). This variant has not been reported in the literature in individuals affected with COL5A2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1113 of the COL5A2 protein (p.Gly1113Val). |