ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.575G>C (p.Arg192Pro) (rs104894729)

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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 RCV000156328 SCV000206046 likely pathogenic Hypertrophic cardiomyopathy 2016-07-13 criteria provided, single submitter clinical testing The p.Arg192Pro variant in TNNI3 is absent from large population studies. This v ariant has been identified by our laboratory in 1 Caucasian infant with HCM. Par ental studies (performed by a different laboratory) revealed de novo occurrence. In addition, 3 other disease-causing variants at this position (p.Arg192His, p. Arg192Cys, and p.Arg192Leu) have been identified in multiple individuals with HC M and/or RCM and have occurred de novo in multiple cases, strongly supporting th at changes at this position may lead to disease (Mogensen 2003, Gomes 2005, Koba yashi 2006, Davis 2007, Mathur 2009, Rai 2009, Davis 2010, Millat 2010, van den Wijngaard 2011, Liu 2012, Yang 2013, LMM data). Computational prediction tools a nd conservation analysis do not provide additional support for or against an imp act to the protein. In summary, although additional studies are required to full y establish its clinical significance, the p.Arg192Pro variant is likely pathoge nic.

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