ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3823C>T (p.Arg1275Ter)

dbSNP: rs1382893400
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
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%).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.