Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000529019 | SCV000659404 | likely benign | Adams-Oliver syndrome 5 | 2022-10-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002431726 | SCV002741911 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-12-14 | criteria provided, single submitter | clinical testing | The p.A834V variant (also known as c.2501C>T), located in coding exon 16 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 2501. The alanine at codon 834 is replaced by valine, an amino acid with similar properties. This amino acid position is well 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. |