ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.60571A>C (p.Ile20191Leu)

gnomAD frequency: 0.00002  dbSNP: rs745806239
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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 RCV000216980 SCV000272712 uncertain significance not specified 2015-12-18 criteria provided, single submitter clinical testing The p.Ile17623Leu variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 3/8504 of East Asian chromosome s and 1/16496 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computational prediction tools and conservatio n analysis do not provide strong support for or against an impact to the protein . In summary, the clinical significance of the p.Ile17623Leu variant is uncertai n.

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