Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000988298 | SCV001137966 | likely pathogenic | Adams-Oliver syndrome 5 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000988298 | SCV001567480 | benign | Adams-Oliver syndrome 5 | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002409318 | SCV002722800 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-07-19 | criteria provided, single submitter | clinical testing | The p.P649T variant (also known as c.1945C>A), located in coding exon 12 of the NOTCH1 gene, results from a C to A substitution at nucleotide position 1945. The proline at codon 649 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is highly 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. |