Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001037031 | SCV001200422 | likely benign | Adams-Oliver syndrome 5 | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002363553 | SCV002662043 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-07-08 | criteria provided, single submitter | clinical testing | The p.G231S variant (also known as c.691G>A), located in coding exon 4 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 691. The glycine at codon 231 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Genome |
RCV001535731 | SCV001749833 | not provided | Adams-Oliver syndrome 5; Aortic valve disorder | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 11-26-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |