ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59360T>A (p.Ile19787Asn)

gnomAD frequency: 0.00001  dbSNP: rs768765076
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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 RCV000219145 SCV000272704 uncertain significance not specified 2015-04-02 criteria provided, single submitter clinical testing The p.Ile17219Asn variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/11462 Latino chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computat ional prediction tools and conservation analysis suggest that the variant may im pact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Ile17219Asn varian t is uncertain.

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