Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000655268 | SCV000777198 | benign | Adams-Oliver syndrome 5 | 2023-10-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001546444 | SCV001765964 | uncertain significance | not provided | 2021-09-09 | criteria provided, single submitter | clinical testing | Has not been previously published in association with NOTCH1-related disorders to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 544191; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27855558) |
Genome- |
RCV000655268 | SCV002553472 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270945 | SCV002553473 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343398 | SCV002623297 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2018-06-28 | criteria provided, single submitter | clinical testing | The p.R1263H variant (also known as c.3788G>A), located in coding exon 23 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 3788. The arginine at codon 1263 is replaced by histidine, an amino acid with highly similar properties. Another alteration affecting the same amino acid, p.R1263C (c.3787C>T), has been reported in association with congenital heart disease (Kerstjens-Frederikse WS et al. Genet. Med., 2016 09;18:914-23). This amino acid position is highly 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. |
Fulgent Genetics, |
RCV002493062 | SCV002793195 | uncertain significance | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2021-10-29 | criteria provided, single submitter | clinical testing |