ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72586C>T (p.Arg24196Cys) (rs185626486)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184798 SCV000237513 uncertain significance not specified 2014-05-14 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).
Ambry Genetics RCV000251339 SCV000318762 likely benign Cardiovascular phenotype 2020-05-29 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification
Invitae RCV000864056 SCV001004802 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-08-03 criteria provided, single submitter clinical testing

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