ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.76229A>T (p.Asn25410Ile)

dbSNP: rs397517706
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 RCV000040616 SCV000064307 uncertain significance not specified 2013-01-23 criteria provided, single submitter clinical testing The Asn22842Ile variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has not been identified in larg e and broad European American and African American populations by the NHLBI Exom e Sequencing Project (http://evs.gs.washington.edu/EVS/), though it may be commo n in other populations. Computational analyses (biochemical amino acid propertie s, conservation, AlignGVGD, and SIFT) do not provide strong support for or again st an impact to the protein. In summary, additional studies are needed to fully assess 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.