Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000242279 | SCV000319278 | uncertain significance | Cardiovascular phenotype | 2020-04-15 | criteria provided, single submitter | clinical testing | The p.A217P variant (also known as c.649G>C), located in coding exon 4 of the TGFBR2 gene, results from a G to C substitution at nucleotide position 649. The alanine at codon 217 is replaced by proline, an amino acid with highly similar properties. This amino acid position is highly conserved in available 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. |
Center for Human Genetics, |
RCV000660320 | SCV000782364 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000660320 | SCV001356686 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-11-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000660320 | SCV001645933 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000983821 | SCV001756851 | likely benign | not provided | 2021-05-04 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function |