Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001044587 | SCV001208392 | benign | Adams-Oliver syndrome 5 | 2023-04-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002363592 | SCV002659247 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-08-10 | criteria provided, single submitter | clinical testing | The p.R217W variant (also known as c.649C>T), located in coding exon 4 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 649. The arginine at codon 217 is replaced by tryptophan, an amino acid with dissimilar 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. |