ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4402G>C (p.Glu1468Gln)

dbSNP: rs876657884
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216261 SCV000272049 uncertain significance not specified 2015-04-09 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Glu1468Gl n variant in MYH7 has not been previously reported in individuals with cardiomyo pathy or large population studies. Glutamic acid (Glu) at position 1468 is high ly conserved in evolution and the change to glutamine (Gln) was predicted to be pathogenic using a computational tool clinically validated by our laboratory. Th is tool's pathogenic prediction is estimated to be correct 94% of the time (Jord an 2011). In summary, while there is some suspicion for a pathogenic role, the c linical significance of the p.Glu1468Gln variant is uncertain.

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.