ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.1398+5G>A (rs542965530)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725264 SCV000335470 uncertain significance not provided 2015-10-06 criteria provided, single submitter clinical testing
GeneDx RCV000152528 SCV000518242 likely benign not specified 2017-08-29 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.
Invitae RCV000549132 SCV000642682 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152528 SCV000201719 uncertain significance not specified 2014-04-02 criteria provided, single submitter clinical testing The 1398+5G>A variant in TTN has been identified by our laboratory in 1 individu al with DCM whom also carried another variant sufficient to explain their diseas e. It was absent from large population studies. This variant is located in the 5 ' splice region. Computational tools do not suggest an impact to splicing. Howev er, this information is not predictive enough to rule out pathogenicity. Additio nal information is needed to fully assess the clinical significance of this vari ant.

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