Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313441 | SCV000739318 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-02-08 | criteria provided, single submitter | clinical testing | The p.V1899M variant (also known as c.5695G>A), located in coding exon 31 of the MYLK gene, results from a G to A substitution at nucleotide position 5695. The valine at codon 1899 is replaced by methionine, an amino acid with highly similar properties. 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. |