Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525433 | SCV000641067 | likely benign | Aortic aneurysm, familial thoracic 4 | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001182232 | SCV001347617 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-03-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001575927 | SCV001803018 | likely benign | not provided | 2021-02-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001182232 | SCV002645189 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-05-04 | criteria provided, single submitter | clinical testing | The p.D1757E variant (also known as c.5271C>A), located in coding exon 36 of the MYH11 gene, results from a C to A substitution at nucleotide position 5271. The aspartic acid at codon 1757 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is well 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. |