Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000462159 | SCV000548961 | benign | Adams-Oliver syndrome 5 | 2023-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418394 | SCV002678646 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2018-06-27 | criteria provided, single submitter | clinical testing | The p.P27T variant (also known as c.79C>A), located in coding exon 2 of the NOTCH1 gene, results from a C to A substitution at nucleotide position 79. The proline at codon 27 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and threonine 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. |