ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1975-6C>G (rs201255023)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769766 SCV000901188 likely benign Cardiomyopathy 2017-09-25 criteria provided, single submitter clinical testing
GeneDx RCV000156343 SCV000526830 likely benign not specified 2017-08-03 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.
Invitae RCV000535549 SCV000636946 benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2017-02-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156343 SCV000206061 uncertain significance not specified 2014-08-27 criteria provided, single submitter clinical testing The 1975-6C>G variant in ACTN2 has previously been identified by our laboratory in 1 Asian adult with HCM who also carried a pathogenic variant in another gene. It was absent from large population studies. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing; however , this information is not predictive enough to rule out pathogenicity. In summar y, the clinical significance of the 1975-6C>G variant is uncertain.

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.