ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.14295T>G (p.His4765Gln)

gnomAD frequency: 0.00006  dbSNP: rs140366460
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172436 SCV000051320 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152444 SCV000201522 uncertain significance not specified 2014-03-14 criteria provided, single submitter clinical testing The His4765Gln variant in TTN has not been previously reported in individuals wi th cardiomyopathy, but has been identified in 2/8594 European American chromosom es by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/) and in 1/1320 of European chromosomes by the ClinSeq Project (dbSNP rs140366460). C omputational prediction tools and conservation analysis are limited or unavailab le for this variant. Additional information is needed to fully assess the clinic al significance of this 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.