ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.3190C>T (p.His1064Tyr) (rs755409090)

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
Blueprint Genetics RCV000208137 SCV000264115 uncertain significance Sudden cardiac death 2015-10-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000613984 SCV000731706 likely benign not specified 2017-06-27 criteria provided, single submitter clinical testing p.His1064Tyr in exon 21 of MYOM1: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, histidine (His) at position 1064 is not conserved in mammals or evolution arily distant species, and 39 species carry a tyrosine (Tyr), supporting that th is change may be tolerated. This variant has been identified in 3/25290 of Finni sh chromosomes by the genome Aggregation Database (gnomAD, http://gnomad.broadin; dbSNP rs75540909), and has been reported in ClinVar (Variation ID# 222744).

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.