ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46150C>G (p.Leu15384Val)

dbSNP: rs727505078
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156518 SCV000206237 uncertain significance not specified 2015-08-07 criteria provided, single submitter clinical testing The p.Leu12816Val variant in TTN has been identified by our laboratory in 2 Cauc asian adults with DCM and was absent from large population studies. Computationa l prediction tools and conservation analysis suggest that this variant may impac t the protein, though this information is not predictive enough to determine pat hogenicity. In summary, the clinical significance of the p.Leu12816Val variant i s uncertain.

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