ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5788C>T (p.Arg1930Ter) (rs772670393)

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
GeneDx RCV000599500 SCV000709823 uncertain significance not specified 2015-05-14 criteria provided, single submitter clinical testing A variant of unknown significance has been identified in the MYH11 gene. The R1930X variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. R1930X results in the loss of the last 43 amino acids, resulting in a truncated protein product. While nonsense mutations have not been reported in HGMD in association with disease (Stenson P et al., 2014), the effect of this truncation on protein function cannot be predicted. The R1930X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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.