ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5582G>A (p.Arg1861His) (rs140914855)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040465 SCV000064156 uncertain significance not specified 2016-09-12 criteria provided, single submitter clinical testing The p.Arg1861His variant in TTN has been identified by our laboratory in 1 indiv idual with DCM and 1 individual with LVNC. This variant has been identified in 9 /66738 European chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs140914855). Computational prediction tools and co nservation analysis do not provide strong support for or against an impact to th e protein. In summary, the clinical significance of the p.Arg1861His variant is uncertain.
GeneDx RCV000040465 SCV000238009 uncertain significance not specified 2014-08-27 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 DCM-CRDM panel(s).
Genetic Services Laboratory, University of Chicago RCV000040465 SCV000249274 uncertain significance not specified 2015-01-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725302 SCV000335850 uncertain significance not provided 2015-10-16 criteria provided, single submitter clinical testing
Invitae RCV000459694 SCV000542875 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-17 criteria provided, single submitter clinical testing

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