ClinVar Miner

Submissions for variant NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met) (rs140126678)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039013 SCV000062691 likely benign not specified 2012-09-21 criteria provided, single submitter clinical testing Ile246Met in exon 6 of MYOZ2: This variant is not expected to have clinical sign ificance because it has been identified in 2.1% (4/186) of Finnish chromosomes ( 1000 Genomes Project, dbSNP rs140126678). In addition, the affected amino acid is poorly conserved in evolution, also suggesting that a change at this position is tolerated. Ile246Met in exon 6 of MYOZ2 (rs140126678; allele frequency = 2. 1%, 4/186)
Illumina Clinical Services Laboratory,Illumina RCV000330572 SCV000447312 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000330572 SCV001000648 benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000023466 SCV000044757 pathogenic Familial hypertrophic cardiomyopathy 16 2013-01-01 no assertion criteria provided literature only
Leiden Muscular Dystrophy (MYOZ2) RCV000024477 SCV000045781 not provided not provided 2012-04-20 no assertion provided curation

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.