ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met) (rs191708454)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152478 SCV000201604 uncertain significance not specified 2014-04-10 criteria provided, single submitter clinical testing The Thr3295Met variant in TTN has not been reported in individuals with cardiomy opathy, but has been identified in 1/120 Colombian chromosomes by the 1000 Genom es Project (dbSNP rs191708454). Threonine (Thr) at position 3295 is not well con served in evolution and 1 mammalian species (squirrel) carries the variant amino acid (Met), raising the possibility that this change may be tolerated. Addition al computational analyses (biochemical amino acid properties, AlignGVGD, PolyPhe n2, and SIFT) do not provide strong support for or against an impact to the prot ein. Additional information is needed to fully assess the clinical significance of this variant.
GeneDx RCV001719943 SCV000238071 likely benign not provided 2020-07-17 criteria provided, single submitter clinical testing
Invitae RCV000540226 SCV000643999 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-19 criteria provided, single submitter clinical testing
Genetics and Genomics Program,Sidra Medicine RCV001293078 SCV001434061 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research

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.