ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4418G>T (p.Arg1473Ile) (rs758663266)

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 RCV000478696 SCV000574323 uncertain significance not provided 2017-03-22 criteria provided, single submitter clinical testing The R1473I variant has not beenpublished as pathogenic or been reported as benign to our knowledge. It is not observed at a significant frequency inlarge population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). TheR1473I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure asthese residues differ in polarity, charge, size and/or other properties. In addition, this substitution occurs at a positionwhere only amino acids with similar properties to arginine (R) are tolerated across species, and in silico analysispredicts this variant is probably damaging to the protein structure/function. Nonetheless, this variant lacksobservation in a significant number of affected individuals, segregation data, and functional evidence, all of whichwould further clarify pathogenicity.

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.