ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1370T>G (p.Ile457Arg)

dbSNP: rs397516103
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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 RCV001170513 SCV001333096 uncertain significance Cardiomyopathy 2018-03-27 criteria provided, single submitter clinical testing
GeneDx RCV001775948 SCV002013937 uncertain significance not provided 2021-06-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar (ClinVar Variant ID# 560881; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 31068177, 27535533)
Dr. Alfred Bastarche Laboratory, Dr. Georges L. Dumont University Hospital Centre RCV000679804 SCV000804311 likely pathogenic Hyaline body myopathy 2018-09-04 no assertion criteria provided 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.