ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88156A>T (p.Ser29386Cys)

gnomAD frequency: 0.00001  dbSNP: rs727505102
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156551 SCV000206270 uncertain significance not specified 2014-05-08 criteria provided, single submitter clinical testing The Ser26818Cys variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the normal function of the protein. In summary, the clinical significance of the Ser26818Cys variant is uncertain.
Invitae RCV000473003 SCV000542536 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000714107 SCV000709282 uncertain significance not provided 2018-01-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714107 SCV000844780 uncertain significance not provided 2017-09-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484952 SCV002776822 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 2021-07-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000714107 SCV003820117 uncertain significance not provided 2021-06-17 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.