Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000799117 | SCV000938766 | benign | Adams-Oliver syndrome 5 | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002386413 | SCV002671553 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-05-26 | criteria provided, single submitter | clinical testing | The p.R2431Q variant (also known as c.7292G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 7292. The arginine at codon 2431 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and glutamine 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. |