ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) (rs750836033)

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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220857 SCV000272047 uncertain significance not specified 2016-01-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Arg1359Hi s variant in MYH7 has not been reported in individuals with cardiomyopathy. It h as been identified in 4/121242 pan ethnic chromosomes by the Exome Aggregation C onsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs750836033). This varian t was predicted to be pathogenic using a computational tool clinically validated by our laboratory. This tool's pathogenic prediction is estimated to be correct 94% of the time (Jordan 2011). In summary, while there is some suspicion for a pathogenic role, the clinical significance of the p.Arg1359His variant is uncer tain.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626205 SCV000746848 likely pathogenic Dilated cardiomyopathy 1S 2017-12-18 criteria provided, single submitter clinical testing

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.