Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000815309 | SCV000955758 | benign | Adams-Oliver syndrome 5 | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002305542 | SCV002599747 | uncertain significance | not provided | 2022-11-07 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002453853 | SCV002616435 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-02-18 | criteria provided, single submitter | clinical testing | The p.R1211Q variant (also known as c.3632G>A), located in coding exon 22 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 3632. The arginine at codon 1211 is replaced by glutamine, an amino acid with highly similar properties. This variant was detected in one individual from a congenital heart defect cohort (Watkins WS et al. Nat Commun, 2019 10;10:4722). A different variant affecting this codon (p.R1211W, c.3631C>T) has been reported in an individual with aortic dissection (Overwater E et al. Hum. Mutat., 2018 09;39:1173-1192). This amino acid position is highly 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, |
RCV002501119 | SCV002791161 | uncertain significance | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2021-10-04 | criteria provided, single submitter | clinical testing |