Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001339213 | SCV001532941 | benign | Adams-Oliver syndrome 5 | 2023-04-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003382535 | SCV004092526 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-07-17 | criteria provided, single submitter | clinical testing | The p.M1858T variant (also known as c.5573T>C), located in coding exon 30 of the NOTCH1 gene, results from a T to C substitution at nucleotide position 5573. The methionine at codon 1858 is replaced by threonine, an amino acid with similar properties. This amino acid position is not 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. |