ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81964A>T (p.Arg27322Ter)

dbSNP: rs794729293
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
GeneDx RCV000184270 SCV000236893 pathogenic not provided 2014-07-16 criteria provided, single submitter clinical testing p.Arg25681Stop (AGA>TGA): c.77041 A>T in exon 276 of the TTN gene (NM_001256850.1). The R25681X mutation in the TTN gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. R25681X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other truncating TTN variants have been reported in approxipatemy 3% of control alleles (Herman et al., 2012). However, R25681X is located in the A-band region of titin, where the majority of truncating mutations associated with DCM have been reported (Herman et al., 2012).In summary, R25681X in the TTN gene is interpreted as a disease-causing mutation. The variant is found in CARDIOMYOPATHY panel(s).

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.