ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.3195G>C (p.Gln1065His) (rs267606904)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Human Development Section,National Institutes of Health RCV000171836 SCV000054814 uncertain significance Hypertrophic cardiomyopathy 2018-04-05 criteria provided, single submitter research
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414926 SCV000492555 uncertain significance Primary dilated cardiomyopathy; Migraine; Hemiplegia 2014-11-24 criteria provided, single submitter clinical testing
Invitae RCV000015212 SCV000287403 likely benign Familial hypertrophic cardiomyopathy 14 2015-11-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037469 SCV000061127 uncertain significance not specified 2015-03-18 criteria provided, single submitter clinical testing The p.Gln1065His variant in MYH6 has been reported in 2 individuals with HCM (Ca rniel 2005, Ng 2013) and has been identified by our laboratory in 1 individual w ith HCM and 1 individual with LVNC. This variant has also been identified in 0.1 % (11/8654) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs267606904). Computational prediction to ols and conservation analysis do not provide strong support for or against an im pact to the protein although the variant amino acid is present in several specie s (birds), raising the possibility that the change may be tolerated. In summary, the clinical significance of the p.Gln1065His variant is uncertain.
OMIM RCV000015212 SCV000035469 pathogenic Familial hypertrophic cardiomyopathy 14 2005-07-05 no assertion criteria provided literature only

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.