Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000576306 | SCV000678229 | uncertain significance | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2021-03-30 | criteria provided, single submitter | clinical testing | NOTCH1 NM_017617.4 exon34 p.His2500Asp (c.7498C>G): This variant has not been reported in the literature but is present in 9/121248 European chromosomes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs763902589). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Invitae | RCV001859994 | SCV002124851 | benign | Adams-Oliver syndrome 5 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002259354 | SCV002538820 | uncertain significance | not provided | 2022-06-08 | 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 has a deleterious effect on protein structure/function |
Genome- |
RCV001859994 | SCV002555193 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270715 | SCV002555194 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395498 | SCV002669826 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-11-07 | criteria provided, single submitter | clinical testing | The p.H2500D variant (also known as c.7498C>G), located in coding exon 34 of the NOTCH1 gene, results from a C to G substitution at nucleotide position 7498. The histidine at codon 2500 is replaced by aspartic acid, 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. |