ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) (rs145039979)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152495 SCV000201644 likely benign not specified 2018-04-03 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Invitae RCV000229239 SCV000286808 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000152495 SCV000616133 uncertain significance not specified 2017-04-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000185187 SCV000701496 uncertain significance not provided 2016-10-03 criteria provided, single submitter clinical testing
Genetics and Genomics Program,Sidra Medicine RCV001293099 SCV001434083 uncertain significance Hypertrophic cardiomyopathy criteria provided, single submitter research
GeneDx RCV000185187 SCV000238030 not provided not provided 2013-04-17 no assertion provided 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 DCM panel(s).

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