Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001929533 | SCV002206011 | benign | Adams-Oliver syndrome 5 | 2023-06-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352600 | SCV002657656 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-12-07 | criteria provided, single submitter | clinical testing | The p.T405M variant (also known as c.1214C>T), located in coding exon 7 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 1214. The threonine at codon 405 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. 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. |
Gene |
RCV002463073 | SCV002757041 | uncertain significance | not provided | 2022-11-08 | 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 |