Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001053602 | SCV001217872 | likely benign | Adams-Oliver syndrome 5 | 2023-07-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002409447 | SCV002715054 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-09-29 | criteria provided, single submitter | clinical testing | The p.R613H variant (also known as c.1838G>A), located in coding exon 11 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 1838. The arginine at codon 613 is replaced by histidine, an amino acid with highly similar properties. This variant has been detected in an individual with aortic aneurysm (Overwater E et al. Hum. Mutat., 2018 09;39:1173-1192). 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. |