ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4355A>G (p.Lys1452Arg)

dbSNP: rs1567699253
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769665 SCV000901073 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-10-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769665 SCV001355257 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-02-10 criteria provided, single submitter clinical testing This missense variant replaces lysine with arginine at codon 1459 of the MYH11 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is 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.