Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000726916 | SCV000250959 | uncertain significance | not provided | 2023-02-09 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |
Eurofins Ntd Llc |
RCV000726916 | SCV000704144 | uncertain significance | not provided | 2016-11-30 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001182793 | SCV001348374 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-04-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001182793 | SCV002465443 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001182793 | SCV002626083 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2019-09-30 | criteria provided, single submitter | clinical testing | The p.T39S variant (also known as c.115A>T), located in coding exon 2 of the TGFBR2 gene, results from an A to T substitution at nucleotide position 115. The threonine at codon 39 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine 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. |