Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002241614 | SCV001409987 | uncertain significance | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2019-07-28 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with COL1A2-related conditions. This variant is present in population databases (rs772672797, ExAC 0.01%). This sequence change replaces lysine with arginine at codon 198 of the COL1A2 protein (p.Lys198Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. |
| Ambry Genetics | RCV002357015 | SCV002650432 | uncertain significance | Cardiovascular phenotype | 2021-04-14 | criteria provided, single submitter | clinical testing | The p.K198R variant (also known as c.593A>G), located in coding exon 12 of the COL1A2 gene, results from an A to G substitution at nucleotide position 593. The lysine at codon 198 is replaced by arginine, 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. |