Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000545147 | SCV000659477 | benign | Adams-Oliver syndrome 5 | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003159949 | SCV003894504 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-12-09 | criteria provided, single submitter | clinical testing | The p.R2095H variant (also known as c.6284G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 6284. The arginine at codon 2095 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |