Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000544764 | SCV000659451 | benign | Adams-Oliver syndrome 5 | 2023-07-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350401 | SCV002645439 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-12-16 | criteria provided, single submitter | clinical testing | The p.A1640T variant (also known as c.4918G>A), located in coding exon 26 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 4918. The alanine at codon 1640 is replaced by threonine, an amino acid with similar properties. This variant was detected in a family with congenital heart defects; however, details were limited and other potentially causative variants were detected in affected members (Jia Y et al. Am J Med Genet A, 2015 Aug;167A:1822-9). This amino acid position is not well conserved in available vertebrate species, and threonine is the reference amino acid in other 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. |