Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001087472 | SCV000650521 | likely benign | Aortic aneurysm, familial thoracic 7 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000757531 | SCV000719416 | likely benign | not provided | 2020-06-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315007 | SCV000739275 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2019-06-11 | criteria provided, single submitter | clinical testing | The p.V709M variant (also known as c.2125G>A), located in coding exon 12 of the MYLK gene, results from a G to A substitution at nucleotide position 2125. The valine at codon 709 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species, and methionine is the reference amino acid on 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. |
ARUP Laboratories, |
RCV000757531 | SCV000885791 | uncertain significance | not provided | 2021-08-15 | criteria provided, single submitter | clinical testing |