ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.583A>C (p.Ile195Leu) (rs876658024)

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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, Partners HealthCare Personalized Medicine RCV000221029 SCV000272524 uncertain significance not specified 2016-01-14 criteria provided, single submitter clinical testing The p.Ile195Leu variant in TNNI3 has not been previously reported in patients wi th cardiomyopathy and was absent from large population studies. Computational pr ediction tools and conservation analysis suggest that the p.Ile195Leu variant ma y not impact the protein, though this information is not predictive enough to ru le out pathogenicity. In summary, the clinical significance of the p.Ile195Leu v ariant is uncertain.

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