ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57017A>G (p.Asp19006Gly)

dbSNP: rs747343924
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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 RCV000216346 SCV000272695 uncertain significance not specified 2015-03-20 criteria provided, single submitter clinical testing The p.Asp16438Gly variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/66150 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Comput ational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determi ne pathogenicity. In summary, the clinical significance of the p.Asp16438Gly var iant is uncertain.

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