ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1834A>G (p.Lys612Glu) (rs727505256)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156779 SCV000206500 uncertain significance not specified 2014-08-27 criteria provided, single submitter clinical testing The Lys612Glu variant in TTN has not been previously reported in individuals wit h cardiomyopathy and was absent from large population studies. Computational pre diction tools and conservation analysis suggest this variant may not impact the protein, though this information is not predictive enough to rule out pathogenic ity. In summary, the clinical significance of the Lys612Glu variant is uncertain .
GeneDx RCV000156779 SCV000714993 likely benign not specified 2018-01-02 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 RCV000863658 SCV001004354 likely benign not provided 2018-12-03 criteria provided, single submitter clinical testing
Invitae RCV001447793 SCV001650868 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-15 criteria provided, single submitter clinical testing

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