Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000815975 | SCV000956459 | benign | Adams-Oliver syndrome 5 | 2022-07-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002406855 | SCV002724127 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-05-05 | criteria provided, single submitter | clinical testing | The p.D622N variant (also known as c.1864G>A), located in coding exon 11 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 1864. The aspartic acid at codon 622 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and asparagine 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. |