Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000529611 | SCV000659490 | benign | Adams-Oliver syndrome 5 | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315058 | SCV000739507 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-02-25 | criteria provided, single submitter | clinical testing | The p.R2372Q variant (also known as c.7115G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 7115. The arginine at codon 2372 is replaced by glutamine, an amino acid with highly 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. |
Mayo Clinic Laboratories, |
RCV001575211 | SCV000782577 | uncertain significance | not provided | 2023-04-13 | criteria provided, single submitter | clinical testing | PP2, PS4_moderate |
Gene |
RCV001575211 | SCV001802160 | uncertain significance | not provided | 2024-10-17 | criteria provided, single submitter | clinical testing | Reported as a paternally inherited variant in an individual with bicuspid aortic valve and a mildly dilated aortic root; however, this individual was also reported to have Bosch-Boonstra-Schaaf optic atrophy syndrome, which was attributed to a de novo variant in the NR2F1 gene (PMID: 28963436); Observed in a cohort of individuals with heritable thoracic aortic aneurysms or dissections, however, case-level data were not described (PMID: 32748548); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28963436, 32748548) |
Genome- |
RCV000529611 | SCV002553262 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270710 | SCV002553263 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |