Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001940965 | SCV002214689 | uncertain significance | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2021-08-24 | 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. This sequence change falls in intron 30 of the COL1A2 gene. It does not directly change the encoded amino acid sequence of the COL1A2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with COL1A2-related conditions. |
Ambry Genetics | RCV002397944 | SCV002711770 | uncertain significance | Cardiovascular phenotype | 2019-10-15 | criteria provided, single submitter | clinical testing | The c.1765-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 31 in the COL1A2 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |