Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000468254 | SCV000548953 | benign | Adams-Oliver syndrome 5 | 2023-06-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365638 | SCV002659045 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2018-05-18 | criteria provided, single submitter | clinical testing | The p.P2122L variant (also known as c.6365C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 6365. The proline at codon 2122 is replaced by leucine, an amino acid with similar properties. This variant was detected in a proband with extracranial artery dissections, and a parent with thoracic aortic aneurysm (Guevara C et al. Front Neurol. 2017;8:245). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |