Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000648720 | SCV000770541 | pathogenic | Aortic aneurysm, familial thoracic 7 | 2022-12-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1275*) in the MYLK gene. This variant occurs within the aortic-specific isoform of MYLK. Loss-of-function variants in the aortic-specific isoform of MYLK are known to be pathogenic for thoracic aortic dissections (PMID: 21055718). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 539075). This premature translational stop signal has been observed in individuals with aortopathy (Invitae). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.0009%). |