ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu) (rs185913848)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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 RCV000172662 SCV000051266 likely benign not provided 2013-06-24 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172662 SCV000493403 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000172662 SCV000855041 uncertain significance not provided 2018-01-19 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852843 SCV000995574 likely benign Arrhythmogenic right ventricular cardiomyopathy 2019-04-09 criteria provided, single submitter clinical testing
GeneDx RCV000172662 SCV000237289 not provided not provided 2013-09-27 no assertion provided clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 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.