ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.431T>C (p.Leu144Pro) (rs121917760)

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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 RCV000036292 SCV000059944 likely pathogenic Hypertrophic cardiomyopathy 2015-05-14 criteria provided, single submitter clinical testing The p.Leu144Pro variant in TNNI3 has been identified by our laboratory in 1 Cauc asian individual with HCM and segregated with disease in 2 affected relatives. I t was absent from large population studies. Leucine (Leu) at position 144 is hig hly conserved in mammals and across evolutionarily distant species and the chang e to proline (Pro) was predicted to be pathogenic using a computational tool cli nically validated by our laboratory. This tool's pathogenic prediction is estima ted to be correct 94% of the time (Jordan 2011). In summary, although additional studies are required to fully establish its clinical significance, the p.Leu144 Pro variant is likely pathogenic.

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