ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.13444A>G (p.Ile4482Val)

gnomAD frequency: 0.00002  dbSNP: rs149169686
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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 RCV000152448 SCV000201537 uncertain significance not specified 2014-07-11 criteria provided, single submitter clinical testing The Ile4482Val variant in TTN has not been previously reported in individuals wi th cardiomyopathy, but has been identified in 1/8594 of European American chromo somes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs149169686). Computational analyses and conservation information are limi ted or unavailable for this variant. In summary, the clinical significance of th e Ile4482Val variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002498714 SCV002813429 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 2021-10-22 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.