ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.62761C>A (p.Pro20921Thr)

gnomAD frequency: 0.00003  dbSNP: rs935268567
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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 RCV000601574 SCV000713843 uncertain significance not specified 2018-01-22 criteria provided, single submitter clinical testing The p.Pro18353Thr variant in TTN has not been previously reported in individual s with cardiomyopathy, but has been identified in 1/8732 of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). C omputational prediction tools and conservation analysis do not provide strong su pport for or against an impact to the protein. In summary, the clinical signific ance of the p.Pro18353Thr variant is uncertain. ACMG/AMP Criteria applied: PM2.

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.