Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000648754 | SCV000770575 | likely benign | Aortic aneurysm, familial thoracic 7 | 2023-11-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440341 | SCV002745980 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-11-14 | criteria provided, single submitter | clinical testing | The p.P973L variant (also known as c.2918C>T), located in coding exon 15 of the MYLK gene, results from a C to T substitution at nucleotide position 2918. The proline at codon 973 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. 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. |