Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313440 | SCV000739317 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-01-12 | criteria provided, single submitter | clinical testing | The p.Q1746P variant (also known as c.5237A>C), located in coding exon 28 of the MYLK gene, results from an A to C substitution at nucleotide position 5237. The glutamine at codon 1746 is replaced by proline, an amino acid with similar properties. This nucleotide position and amino acid position are highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |