Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001211817 | SCV001383376 | benign | Adams-Oliver syndrome 5 | 2022-07-26 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV002069303 | SCV002495876 | uncertain significance | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2021-03-30 | criteria provided, single submitter | clinical testing | NOTCH1 NM_017617.4 exon 17 p.Ala882Thr (c.2644G>A): This variant has not been reported in the literature but is present in 0.001% (1/64566) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/9-136510749-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:941939). 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. |
Genome- |
RCV001211817 | SCV002553536 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271194 | SCV002553538 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429900 | SCV002743393 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-05-27 | criteria provided, single submitter | clinical testing | The p.A882T variant (also known as c.2644G>A), located in coding exon 17 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 2644. The alanine at codon 882 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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. |