ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3573C>T (p.Ala1191=)

gnomAD frequency: 0.00054  dbSNP: rs727505358
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
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 RCV000156920 SCV000206641 likely benign not specified 2014-12-11 criteria provided, single submitter clinical testing p.Ala1191Ala in exon 26 of MYH6: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.1% (53/49738) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org).
Ambry Genetics RCV000249483 SCV000320307 likely benign Cardiovascular phenotype 2015-11-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000466529 SCV000557897 benign Hypertrophic cardiomyopathy 14 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000156920 SCV000731194 likely benign not specified 2017-06-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769416 SCV000900809 benign Cardiomyopathy 2017-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311848 SCV001502185 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing MYH6: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001311848 SCV004563034 likely benign not provided 2023-10-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000156920 SCV005039610 benign not specified 2024-03-11 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000156920 SCV001919110 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001311848 SCV001929918 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001311848 SCV001974334 likely benign not provided 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.