ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5725C>A (p.Arg1909=)

gnomAD frequency: 0.00029  dbSNP: rs146796870
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, Mass General Brigham Personalized Medicine RCV000151232 SCV000199099 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Arg1909Arg in Exon 39 of MYH7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence. It has been identified in 0.1% (4/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs146796870).
GeneDx RCV001704088 SCV000513815 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Invitae RCV000629133 SCV000750049 benign Hypertrophic cardiomyopathy 2024-01-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001185999 SCV001352324 likely benign Cardiomyopathy 2018-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345468 SCV002649648 likely benign Cardiovascular phenotype 2018-02-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003975177 SCV004790634 likely benign MYH7-related condition 2022-07-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.