Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698048 | SCV000728022 | likely benign | not provided | 2020-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315934 | SCV000738410 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2015-10-04 | criteria provided, single submitter | clinical testing | The p.A2463T variant (also known as c.7387G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 7387. The alanine at codon 2463 is replaced by threonine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project; however this position was not covered in the ESP. This amino acid position is poorly 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 variant remains unclear. |
Baylor Genetics | RCV001335848 | SCV001529091 | uncertain significance | Aortic valve disease 1 | 2018-05-30 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001458130 | SCV001661945 | likely benign | Adams-Oliver syndrome 5 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905642 | SCV004727547 | likely benign | NOTCH1-related condition | 2022-03-16 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |