ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64826C>T (p.Thr21609Met)

gnomAD frequency: 0.00001  dbSNP: rs765913263
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Total submissions: 2
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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 RCV000214225 SCV000272720 uncertain significance not specified 2016-03-18 criteria provided, single submitter clinical testing The p.Thr19041Met variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/9782 African chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs7 65913263). Computational prediction tools and conservation analysis suggest that the p.Thr19041Met variant may impact the protein, though this information is no t predictive enough to determine pathogenicity. In summary, the clinical signifi cance of the p.Thr19041Met variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002485403 SCV002791195 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 2021-08-20 criteria provided, single submitter clinical testing

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