Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000770631 | SCV000902082 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-02-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000770631 | SCV002619753 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-04-28 | criteria provided, single submitter | clinical testing | The p.T1344R variant (also known as c.4031C>G), located in coding exon 25 of the NOTCH1 gene, results from a C to G substitution at nucleotide position 4031. The threonine at codon 1344 is replaced by arginine, an amino acid with similar properties. Another alteration affecting the same amino acid, p.T1344M (c.4031C>T), has been reported in association with congenital heart disease (Kerstjens-Frederikse WS et al. Genet. Med., 2016 09;18:914-23). This amino acid position is 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 | RCV002536610 | SCV003274941 | benign | Adams-Oliver syndrome 5 | 2023-09-03 | criteria provided, single submitter | clinical testing |