ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22513A>G (p.Arg7505Gly)

gnomAD frequency: 0.00003  dbSNP: rs372826489
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 RCV000222125 SCV000272596 uncertain significance not specified 2016-03-02 criteria provided, single submitter clinical testing The p.Arg6261Gly variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/63734 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 372826489). Computational prediction tools and conservation analysis do not prov ide strong support for or against an impact to the protein. In summary, the clin ical significance of the p.Arg6261Gly variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002478774 SCV002784718 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 2021-10-19 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.