Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000820626 | SCV000961345 | benign | Adams-Oliver syndrome 5 | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390690 | SCV002674862 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-04-19 | criteria provided, single submitter | clinical testing | The p.Q2544R variant (also known as c.7631A>G), located in coding exon 34 of the NOTCH1 gene, results from an A to G substitution at nucleotide position 7631. The glutamine at codon 2544 is replaced by arginine, an amino acid with highly similar 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. |