Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002454841 | SCV002615343 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-05-24 | criteria provided, single submitter | clinical testing | The p.E1183D variant (also known as c.3549G>T), located in coding exon 22 of the NOTCH1 gene, results from a G to T substitution at nucleotide position 3549. The glutamic acid at codon 1183 is replaced by aspartic acid, an amino acid with highly 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 | RCV003099564 | SCV002947086 | benign | Adams-Oliver syndrome 5 | 2022-10-15 | criteria provided, single submitter | clinical testing |