ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56296G>C (p.Ala18766Pro) (rs727505268)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156793 SCV000206514 uncertain significance not specified 2014-09-24 criteria provided, single submitter clinical testing The Ala16198Pro variant in TTN has not been previously reported in individuals w ith cardiomyopathy and was absent from large population studies. Computational p rediction tools and evolutionary conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to det ermine pathogenicity. In summary, the clinical significance of the Ala16198Pro v ariant is uncertain.
Genetic Services Laboratory, University of Chicago RCV000156793 SCV000249266 uncertain significance not specified 2015-04-10 criteria provided, single submitter clinical testing

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