ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.586G>T (p.Asp196Tyr)

dbSNP: rs104894727
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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 RCV000156282 SCV000206000 uncertain significance not specified 2019-03-08 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770564 SCV000902013 uncertain significance Cardiomyopathy 2022-01-24 criteria provided, single submitter clinical testing
Invitae RCV001850152 SCV002223705 uncertain significance Hypertrophic cardiomyopathy 2023-07-07 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the p.Asp196 amino acid residue in TNNI3. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11815426, 12707239, 15607392, 26914223). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 179492). This variant has not been reported in the literature in individuals affected with TNNI3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 196 of the TNNI3 protein (p.Asp196Tyr).

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.