ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.3584G>A (p.Arg1195His) (rs747891865)

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 RCV000493710 SCV000581957 uncertain significance not provided 2017-05-05 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYH6 gene. The R1195H variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, to our knowledge no studies have been performed to determine the functional effect of the R1195H variant. Furthermore, the R1195H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties.

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.