ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr) (rs374408615)

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
GeneDx RCV000220902 SCV000238293 uncertain significance not specified 2013-04-09 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 DCM panel(s).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220902 SCV000270986 likely benign not specified 2015-11-12 criteria provided, single submitter clinical testing p.Met5867Thr in exon 70 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, nine mammals have a Threonine (Thr) at this position. It has also been iden tified in 2/66616 European chromosomes by the Exome Aggregation Consortium (ExAC , http://exac.broadinstitute.org/; dbSNP rs374408615).
Invitae RCV000643152 SCV000764839 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-10 criteria provided, single submitter clinical testing

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.