ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45001A>C (p.Asn15001His)

dbSNP: rs373109469
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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 RCV000154946 SCV000204628 uncertain significance not specified 2014-11-28 criteria provided, single submitter clinical testing The p.Asn12433His variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/8260 European American chromo somes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs373109469). The affected amino acid is poorly conserved in evolution and many fish species carry a Histidine (His), raising the possibility that this ch ange is benign. However, additional data is needed to establish this variant's clinical significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000230282 SCV000286671 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725548 SCV000701018 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765572 SCV000896887 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 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000725548 SCV003824196 uncertain significance not provided 2019-08-29 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.