Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003387036 | SCV004092525 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-08-02 | criteria provided, single submitter | clinical testing | The p.G1655D variant (also known as c.4964G>A), located in coding exon 26 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 4964. The glycine at codon 1655 is replaced by aspartic acid, 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. |
Invitae | RCV003748490 | SCV004550214 | benign | Adams-Oliver syndrome 5 | 2023-04-01 | criteria provided, single submitter | clinical testing |