Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002311142 | SCV000320233 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-12-07 | criteria provided, single submitter | clinical testing | The p.T2455A variant (also known as c.7363A>G), located in coding exon 34 of the NOTCH1 gene, results from an A to G substitution at nucleotide position 7363. The threonine at codon 2455 is replaced by alanine, an amino acid with similar properties. This amino acid position is 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 variant remains unclear. |
Fulgent Genetics, |
RCV000766053 | SCV000897509 | uncertain significance | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000816086 | SCV000956576 | benign | Adams-Oliver syndrome 5 | 2023-10-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001770223 | SCV002001196 | uncertain significance | not provided | 2023-08-17 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 37016248, 29120527, 33415446, 36426335) |
Genome- |
RCV000816086 | SCV002555200 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270179 | SCV002555201 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |