Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001091466 | SCV001247532 | uncertain significance | not provided | 2019-12-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001091466 | SCV001814185 | uncertain significance | not provided | 2021-04-23 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002375012 | SCV002668566 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-02-08 | criteria provided, single submitter | clinical testing | The p.A24V variant (also known as c.71C>T), located in coding exon 1 of the CBS gene, results from a C to T substitution at nucleotide position 71. The alanine at codon 24 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV002554835 | SCV003475549 | uncertain significance | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | 2022-03-17 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 24 of the CBS protein (p.Ala24Val). This variant is present in population databases (rs759682004, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CBS-related conditions. ClinVar contains an entry for this variant (Variation ID: 871476). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Natera, |
RCV001833697 | SCV002083833 | uncertain significance | Classic homocystinuria | 2020-03-11 | no assertion criteria provided | clinical testing |