ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7556T>C (p.Val2519Ala)

gnomAD frequency: 0.00001  dbSNP: rs372361514
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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 RCV000213091 SCV000272777 uncertain significance not specified 2015-02-13 criteria provided, single submitter clinical testing The p.Val2519Ala variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/8682 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s372361514). Computational prediction tools and conservation analysis do not pro vide strong support for or against an impact to the protein. In summary, the cli nical significance of the p.Val2519Ala variant is uncertain.

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