ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14911T>G (p.Cys4971Gly) (rs537312655)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000193330 SCV000238210 uncertain significance not specified 2014-04-19 criteria provided, single submitter clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in CARDIOMYOPATHY panel(s).
Genetic Services Laboratory, University of Chicago RCV000193330 SCV000249232 uncertain significance not specified 2015-04-22 criteria provided, single submitter clinical testing
Invitae RCV000550893 SCV000642702 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852915 SCV000995656 likely benign Cardiomyopathy 2018-10-02 criteria provided, single submitter clinical testing

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