Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001940539 | SCV002187577 | uncertain significance | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2022-08-09 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs773392397, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 714 of the COL1A2 protein (p.Arg714His). This variant has not been reported in the literature in individuals affected with COL1A2-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C25"). ClinVar contains an entry for this variant (Variation ID: 1418886). |
| Ambry Genetics | RCV004043992 | SCV005032211 | uncertain significance | Cardiovascular phenotype | 2023-10-06 | criteria provided, single submitter | clinical testing | The p.R714H variant (also known as c.2141G>A), located in coding exon 36 of the COL1A2 gene, results from a G to A substitution at nucleotide position 2141. The arginine at codon 714 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |