Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788866 | SCV000928138 | uncertain significance | not provided | 2018-12-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002535793 | SCV003512825 | benign | Adams-Oliver syndrome 5 | 2022-09-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004027373 | SCV005027212 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-01-01 | criteria provided, single submitter | clinical testing | The p.G1353S variant (also known as c.4057G>A), located in coding exon 25 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 4057. The glycine at codon 1353 is replaced by serine, an amino acid with 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. |