Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002310938 | SCV000319561 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-04-04 | criteria provided, single submitter | clinical testing | The p.R2431W variant (also known as c.7291C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 7291. The arginine at codon 2431 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not 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. |
Invitae | RCV001854978 | SCV002208898 | benign | Adams-Oliver syndrome 5 | 2023-06-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001854978 | SCV002555206 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270158 | SCV002555207 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003320625 | SCV004025736 | uncertain significance | not provided | 2023-02-10 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function |