Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230592 | SCV001403076 | benign | Adams-Oliver syndrome 5 | 2023-03-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436893 | SCV002745649 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-04-03 | criteria provided, single submitter | clinical testing | The p.V874I variant (also known as c.2620G>A), located in coding exon 17 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 2620. The valine at codon 874 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |
Prevention |
RCV004545137 | SCV004758930 | uncertain significance | NOTCH1-related disorder | 2024-01-15 | criteria provided, single submitter | clinical testing | The NOTCH1 c.2620G>A variant is predicted to result in the amino acid substitution p.Val874Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |