ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.438G>T (p.Lys146Asn) (rs397516212)

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
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000162334 SCV000212632 pathogenic Familial hypertrophic cardiomyopathy 1 criteria provided, single submitter research This MYH7 Lys146Asn variant has been reported as a de novo mutation in a sporadic childhood cardiomyopathy case (Morita H, et al., 2008). This mutation is not observed in the large Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/). Here we report this mutation in 2 unrelated HCM index cases. Familial study in one family shows segregation of the variant with disease. Based on the de novo report and our data, we classify this mutation as "pathogenic".
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035907 SCV000059558 likely pathogenic Hypertrophic cardiomyopathy 2013-03-21 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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.