Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000799752 | SCV000939428 | benign | Adams-Oliver syndrome 5 | 2023-10-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001555791 | SCV001777258 | uncertain significance | not provided | 2023-09-07 | criteria provided, single submitter | clinical testing | Has not been previously reported in association with heritable disorders of connective tissue 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: 28938622, 35715887, 35105959, 36341199) |
Genome- |
RCV000799752 | SCV002553487 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271041 | SCV002553488 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002458453 | SCV002617325 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-07-31 | criteria provided, single submitter | clinical testing | The p.D1185N variant (also known as c.3553G>A), located in coding exon 22 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 3553. The aspartic acid at codon 1185 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species, and aspargine 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 alteration remains unclear. |