ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.245C>G (p.Pro82Arg)

dbSNP: rs752503819
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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 RCV001170621 SCV001333211 uncertain significance Cardiomyopathy 2018-02-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001170621 SCV001345112 uncertain significance Cardiomyopathy 2024-08-19 criteria provided, single submitter clinical testing This missense variant replaces proline with arginine at codon 82 of the TNNI3 protein. Computational prediction tools indicate that this variant has a deleterious impact on protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in two individuals affected with hypertrophic cardiomyopathy and in one healthy control individual (PMID: 22876777). This variant has been identified in 1/241594 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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.