ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40315G>T (p.Val13439Phe)

dbSNP: rs397517559
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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 RCV000040203 SCV000063894 uncertain significance not specified 2012-07-02 criteria provided, single submitter clinical testing The Val10871Phe variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has not been identified in larg e and broad populations by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS). Computational analyses (conservation, AlignGVGD, and PolyPhen2 ) suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Additional information is ne eded to fully assess the clinical significance of the Val10871Phe variant.

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