Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000655257 | SCV000777187 | benign | Adams-Oliver syndrome 5 | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001584515 | SCV001812539 | uncertain significance | not provided | 2021-04-06 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 33247628) |
Genome- |
RCV000655257 | SCV002553461 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270941 | SCV002553462 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352063 | SCV002621048 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2019-03-28 | criteria provided, single submitter | clinical testing | The p.N1318K variant (also known as c.3954T>A), located in coding exon 24 of the NOTCH1 gene, results from a T to A substitution at nucleotide position 3954. The asparagine at codon 1318 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly 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. |