Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315129 | SCV000739497 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-08-30 | criteria provided, single submitter | clinical testing | The p.R780W variant (also known as c.2338C>T), located in coding exon 14 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 2338. The arginine at codon 780 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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. |
Invitae | RCV002531843 | SCV003292232 | benign | Adams-Oliver syndrome 5 | 2023-10-03 | criteria provided, single submitter | clinical testing |