ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr) (rs558670891)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156205 SCV000205921 likely benign not specified 2020-09-22 criteria provided, single submitter clinical testing The p.Ile18109Thr variant in TTN is classified as likely benign because it has been identified in 0.03% (10/30594) of South Asian chromosomes by gnomAD ( Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. ACMG/AMP Criteria applied: BS1.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000184687 SCV000338418 uncertain significance not provided 2016-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000184687 SCV000237382 not provided not provided 2014-04-08 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-CRDM 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.