ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80323G>A (p.Val26775Met)

gnomAD frequency: 0.00004  dbSNP: rs370589806
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 RCV000040655 SCV000064346 uncertain significance not specified 2012-11-19 criteria provided, single submitter clinical testing The Val24207Met variant in TTN has been identified in 1/3994 African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS/). Computational analyses (biochemical amino acid prop erties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong supp ort for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Val24207Met variant.

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.