ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.15122C>G (p.Thr5041Arg)

gnomAD frequency: 0.00016  dbSNP: rs148791107
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
GeneDx RCV000217022 SCV000238137 uncertain significance not specified 2014-04-07 criteria provided, single submitter 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 CARDIOMYOPATHY panel(s).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000217022 SCV000272855 uncertain significance not specified 2015-01-30 criteria provided, single submitter clinical testing The p.Thr5041Arg variant in TTN has not been previously reported in individuals with cardiomyopathy but has been identified in 3/10496 of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s148791107). Computational prediction tools and conservation analysis are limit ed or unavailable for this variant. In summary, the clinical significance of the p.Thr5041Arg variant is uncertain.
Eurofins Ntd Llc (ga) RCV000727056 SCV000705248 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500565 SCV002805613 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-10-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727056 SCV005433932 uncertain significance not provided 2024-10-01 criteria provided, single submitter clinical testing TTN: PM2, BP4

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.