Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002017343 | SCV002295682 | likely pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | 2021-09-15 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that disruption of this splice site results in a frameshift (c.210_235del26), which introduces a new termination codon (PMID: 11359213). However the mRNA is not expected to undergo nonsense-mediated decay. This variant is also known as IVS1-1G>C. Disruption of this splice site has been observed in individual(s) with homocystinuria (PMID: 11359213). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 3 of the CBS gene. RNA analysis indicates that this variant induces altered splicing and likely disrupts the C-terminus of the protein. |
Baylor Genetics | RCV003464378 | SCV004215563 | pathogenic | Classic homocystinuria | 2022-06-29 | criteria provided, single submitter | clinical testing |