Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001236400 | SCV001409123 | benign | Adams-Oliver syndrome 5 | 2023-08-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002451568 | SCV002614249 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-02-24 | criteria provided, single submitter | clinical testing | The p.V1229I variant (also known as c.3685G>A), located in coding exon 23 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 3685. The valine at codon 1229 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available 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. |