Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000769577 | SCV000900974 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-02-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001305494 | SCV001494831 | uncertain significance | Adams-Oliver syndrome 5 | 2023-01-22 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 2403 of the NOTCH1 protein (p.Gln2403His). This variant has not been reported in the literature in individuals affected with NOTCH1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NOTCH1 protein function. ClinVar contains an entry for this variant (Variation ID: 626572). |
Gene |
RCV001662808 | SCV001874118 | uncertain significance | not provided | 2022-07-29 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26582918) |
Genome- |
RCV002271021 | SCV002553250 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001305494 | SCV002555211 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing |