ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106100C>T (p.Thr35367Met)

gnomAD frequency: 0.00005  dbSNP: rs377056111
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216660 SCV000272835 uncertain significance not specified 2015-03-04 criteria provided, single submitter clinical testing The p.Thr32799Met variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/16510 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSN P rs377056111). Computational prediction tools and conservation analysis does no t provide strong evidence for or against an impact the protein. In summary, the clinical significance of the p.Thr32799Met variant is uncertain.
GeneDx RCV001560734 SCV001783203 likely benign not provided 2021-08-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001560734 SCV003821205 uncertain significance not provided 2019-10-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150115 SCV003838499 uncertain significance Cardiomyopathy 2021-10-22 criteria provided, single submitter 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.