Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001303531 | SCV001492779 | benign | Adams-Oliver syndrome 5 | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001536208 | SCV001752933 | uncertain significance | not provided | 2023-10-05 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Genome- |
RCV001303531 | SCV002553483 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271211 | SCV002553484 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002451682 | SCV002614110 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-02-23 | criteria provided, single submitter | clinical testing | The p.Q1193H variant (also known as c.3579G>T), located in coding exon 22 of the NOTCH1 gene, results from a G to T substitution at nucleotide position 3579. The glutamine at codon 1193 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, histidine is the reference amino acid in other vertebrate species. 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. |