Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001920938 | SCV002193909 | benign | Adams-Oliver syndrome 5 | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002359415 | SCV002655863 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-03-07 | criteria provided, single submitter | clinical testing | The p.R2087Q variant (also known as c.6260G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 6260. The arginine at codon 2087 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |
Fulgent Genetics, |
RCV002491881 | SCV002775855 | uncertain significance | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2021-10-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003442959 | SCV004170278 | uncertain significance | not provided | 2023-05-10 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |