Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002315076 | SCV000739393 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-01-25 | criteria provided, single submitter | clinical testing | The p.A1800T variant (also known as c.5398G>A), located in coding exon 29 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 5398. The alanine at codon 1800 is replaced by threonine, an amino acid with similar properties. Based on data from ExAC, the A allele was reported in 1 of 118930 (0.0008%) total alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed January 25, 2016]). This variant was previously reported in the SNPDatabase as rs569203312. This variant was not reported in population based cohorts in the following databases: NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project. In the ESP, this variant was not observed in 6043 samples (12086 alleles) with coverage at this position. This amino acid position is poorly conserved on limited sequence alignment; however, threonine is the reference amino acid in other 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 variant remains unclear. |
| Invitae | RCV001219139 | SCV001391060 | benign | Adams-Oliver syndrome 5 | 2022-11-01 | criteria provided, single submitter | clinical testing | |
| Genome- |
RCV001219139 | SCV002553357 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
| Genome- |
RCV002270876 | SCV002553359 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |