Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000182570 | SCV000234920 | uncertain significance | not provided | 2016-07-28 | criteria provided, single submitter | clinical testing | The W547X variant in the MYLK gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The W547X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although a couple of nonsense variants have been reported in the Human Gene Mutation Database in association with autosomal dominant aortic dissection with or without aneurysm (Stenson et al., 2014), loss-of-function has not yet been definitively established as the mechanism of disease for MYLK-related disorders. Therefore, we interpret W547X as a variant of uncertain significance. |