Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000694445 | SCV000822892 | likely benign | Aortic aneurysm, familial thoracic 7 | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440469 | SCV002749405 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2019-10-04 | criteria provided, single submitter | clinical testing | The p.D914G variant (also known as c.2741A>G), located in coding exon 15 of the MYLK gene, results from an A to G substitution at nucleotide position 2741. The aspartic acid at codon 914 is replaced by glycine, an amino acid with similar properties. This amino acid position is not 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. |