Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315067 | SCV000739349 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-12-07 | criteria provided, single submitter | clinical testing | The p.P1809R variant (also known as c.5426C>G), located in coding exon 30 of the MYLK gene, results from a C to G substitution at nucleotide position 5426. The proline at codon 1809 is replaced by arginine, an amino acid with dissimilar properties, and is located in the Ig-like C2-type 9 domain. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |