ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4136C>T (p.Thr1379Met) (rs145611185)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216382 SCV000272024 uncertain significance not specified 2015-08-06 criteria provided, single submitter clinical testing The p.Thr1379Met variant in MYH6 has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.1% (72/66714) of European chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs145611185). Computational prediction tools and conservation analysis suggest that the p.Thr1379Met variant may impact the protein, though this infor mation is not predictive enough to determine pathogenicity. In summary, the clin ical significance of the p.Thr1379Met variant is uncertain.
Invitae RCV000233729 SCV000287422 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000216382 SCV000740618 likely benign not specified 2016-11-25 criteria provided, single submitter clinical testing
Mendelics RCV000989182 SCV001139403 uncertain significance Familial hypertrophic cardiomyopathy 14 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000233729 SCV001149134 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157339 SCV000207076 uncertain significance Primary familial hypertrophic cardiomyopathy 2013-12-20 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.