ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22531C>T (p.Pro7511Ser)

gnomAD frequency: 0.00003  dbSNP: rs727505333
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
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 RCV000156882 SCV000206603 uncertain significance not specified 2014-11-12 criteria provided, single submitter clinical testing The p.Pro6267Ser variant in TTN has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p .Pro6267Ser variant is uncertain.
Eurofins Ntd Llc (ga) RCV000726200 SCV000342862 uncertain significance not provided 2016-06-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147367 SCV003835381 uncertain significance Dilated cardiomyopathy 1G 2022-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147370 SCV003835798 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2022-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147366 SCV003835799 uncertain significance Hypertrophic cardiomyopathy 9 2022-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147368 SCV003835932 uncertain significance Tibial muscular dystrophy 2022-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147369 SCV003835986 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147371 SCV003836017 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2022-11-03 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.