ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.901C>T (p.Gln301Ter) (rs545515041)

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 RCV000477311 SCV000550011 uncertain significance Aortic aneurysm, familial thoracic 7 2018-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 301 (p.Gln301*) of the MYLK gene. There is a long and a short form of the protein and this variant would only affect the longer form. The vast majority of aortic cells only contain the smaller protein product (PMID: 21055718) so it is unclear whether this would result in a truncated protein. This variant is present in population databases (rs545515041, ExAC 0.003%) but has not been reported in the literature in individuals with a MYLK-related disease. ClinVar contains an entry for this variant (Variation ID: 409684). In summary, this is a rare variant with uncertain impact on protein function. It is not expected to cause disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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.