ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg) (rs190636272)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172406 SCV000055069 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172406 SCV000335926 uncertain significance not provided 2018-05-21 criteria provided, single submitter clinical testing
GeneDx RCV000039885 SCV000238229 likely benign not specified 2017-02-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000039885 SCV000597706 uncertain significance not specified 2016-05-23 criteria provided, single submitter clinical testing
Invitae RCV000231307 SCV000286462 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039885 SCV000063576 uncertain significance not specified 2016-01-29 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Lys4194Arg va riant in TTN has been previously identified by our laboratory in 2 adults with D CM, 1 adult with HCM, and 1 infant with HCM and LV enlargement. This variant has been identified in 0.1% (85/66092) of European chromosomes by the Exome Aggrega tion Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs190636272). Compu tational prediction tools and conservation analysis do not provide strong suppor t for or against an impact to the protein. In summary, while the clinical signif icance of the p.Lys4194Arg variant is uncertain, its frequency suggests that it is more likely to be benign.

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