Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000550878 | SCV000659480 | benign | Adams-Oliver syndrome 5 | 2023-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003159950 | SCV003861504 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-11-17 | criteria provided, single submitter | clinical testing | The p.C2168Y variant (also known as c.6503G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 6503. The cysteine at codon 2168 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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. |