ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50552-2A>G

dbSNP: rs794729266
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 RCV000184227 SCV000236849 likely pathogenic not provided 2013-01-03 criteria provided, single submitter clinical testing The c.45629-2 A>G variant in the TTN gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. c.45629-2 A>G destroys the canonical splice acceptor site in intron 218 and is predicted to cause abnormal gene splicing. This variant is predicted to lead either to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. c.45629-2 A>G is located in the A-band region of titin, where the majority of truncating and splice site mutations associated with DCM have been reported (Herman D et al., 2012). The variant is found in DCM 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.