Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000727124 | SCV000617310 | uncertain significance | not provided | 2023-08-11 | criteria provided, single submitter | clinical testing | Reported in an individual with bicuspid aortic valve (Bonachea et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25260786, 31624253) |
Eurofins Ntd Llc |
RCV000727124 | SCV000705953 | uncertain significance | not provided | 2017-03-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001058437 | SCV001223010 | benign | Adams-Oliver syndrome 5 | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001335846 | SCV001529089 | uncertain significance | Aortic valve disease 1 | 2018-04-20 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genome- |
RCV001058437 | SCV002553300 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001335846 | SCV002553301 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367728 | SCV002660761 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-10-06 | criteria provided, single submitter | clinical testing | The p.P2161S variant (also known as c.6481C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 6481. The proline at codon 2161 is replaced by serine, an amino acid with similar properties. This variant was identified in a cohort of individuals with bicuspid aortic valve and in an individual with heterotaxy (Bonachea EM et al. BMC Med Genomics, 2014 Sep;7:56; Watkins WS et al. Nat Commun. 2019 10;10(1):4722). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002481696 | SCV002779589 | uncertain significance | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2022-04-26 | criteria provided, single submitter | clinical testing | |
Genome |
RCV001535474 | SCV001749401 | not provided | Adams-Oliver syndrome 5; Aortic valve disorder | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 12-27-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |