Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002336347 | SCV002639296 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2019-08-12 | criteria provided, single submitter | clinical testing | The p.A1615V variant (also known as c.4844C>T), located in coding exon 26 of the MYLK gene, results from a C to T substitution at nucleotide position 4844. The alanine at codon 1615 is replaced by valine, an amino acid with similar properties, and is located in the protein kinase domain. This amino acid position is well conserved in available vertebrate species; however, valine 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. |
Invitae | RCV002515047 | SCV002964670 | benign | Aortic aneurysm, familial thoracic 7 | 2023-04-14 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV000157376 | SCV000207114 | likely benign | Aortic aneurysm, familial abdominal, 1 | 2014-05-19 | no assertion criteria provided | clinical testing |