Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002606318 | SCV003499192 | uncertain significance | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | 2022-03-04 | criteria provided, single submitter | clinical testing | This sequence change disrupts the translational stop signal of the CBS mRNA. It is expected to extend the length of the CBS protein by 31 additional amino acid residues. This variant is present in population databases (rs767500762, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CBS-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Ambry Genetics | RCV003161930 | SCV003861553 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-11-15 | criteria provided, single submitter | clinical testing | The c.1654T>G variant (also known as p.*552Gext*31), located in coding exon 15 of the CBS gene, results from a T to G substitution at nucleotide position 1654. This alteration disrupts the stop codon of the CBS gene and is predicted to preserve the native sequence while resulting in the elongation of the protein by 31 amino acids. The exact functional effect of the additional amino acids is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |