Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000691648 | SCV000819434 | benign | Adams-Oliver syndrome 5 | 2023-08-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001547731 | SCV001767507 | uncertain significance | not provided | 2021-07-22 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 570718; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 28776427, 24418111) |
Genome- |
RCV000691648 | SCV002553257 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270967 | SCV002553259 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002360742 | SCV002665783 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-12-06 | criteria provided, single submitter | clinical testing | The p.P2377L variant (also known as c.7130C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 7130. The proline at codon 2377 is replaced by leucine, an amino acid with similar properties. This alteration has been detected in a control cohort and in a thoracic aortic aneurysm and dissection (TAAD) cohort (Freylikhman O et al. Congenit Heart Dis Jan;9:391-6; Renner S et al. Genet Med, 2019 Aug;21:1832-1841). 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. |