ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84553C>T (p.Arg28185Ter)

dbSNP: rs397517729
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 RCV000040708 SCV000064399 uncertain significance not specified 2012-06-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Arg25617X v ariant in TTN has not been reported in the literature but has been detected by o ur laboratory in 1 infant with RCM of Arab ancestry who carried another cardiomy opathy variant of unknown significance. The Arg25617X variant leads to a prematu re termination codon at position 25617, which is predicted to lead to a truncate d or absent protein. Loss of function of the TTN gene is strongly associated wit h cardiomyopathy (DCM; Herman 2012). The Arg25617X variant is likely to severely impact the protein, but given that it has been detected in an individual with R CM (which is currently not associated with variants in TTN), additional studies are needed to determine its clinical 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.