ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53149C>T (p.Arg17717Cys)

gnomAD frequency: 0.00001  dbSNP: rs369001587
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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 RCV000040343 SCV000064034 uncertain significance not specified 2011-12-21 criteria provided, single submitter clinical testing The Arg15149Cys variant (TTN) has not been previously reported in the literature nor previously identified by our laboratory. This variant has been identified i n 0/6640 European American chromosomes and 1/3108 African American chromosomes b y the NHBLI Exome sequencing project in a clinical cohort that included individu als with heart disease (http://evs.gs.washington.edu/EVS). Computational tools ( AlignGVGD, SIFT) predict that a change to cysteine (Cys) would impact the protei n, though the accuracy of these tools is unknown. Additional information is need ed to fully assess the clinical significance of the Arg15149Cys variant.
Fulgent Genetics, Fulgent Genetics RCV002496646 SCV002812729 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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