ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65161T>C (p.Cys21721Arg)

gnomAD frequency: 0.00004  dbSNP: rs745497694
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000221890 SCV000272722 uncertain significance not specified 2015-02-18 criteria provided, single submitter clinical testing The p.Cys19153Arg variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/8494 East Asian chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Compu tational prediction tools and conservation analysis suggest that the p.Cys19153A rg variant may impact the protein, though this information is not predictive eno ugh to determine pathogenicity. In summary, the clinical significance of the p.C ys19153Arg variant is uncertain.
Eurofins Ntd Llc (ga) RCV000728824 SCV000856441 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798709 SCV002042603 likely benign Cardiomyopathy 2021-02-26 criteria provided, single submitter clinical testing

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