ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.559G>A (p.Glu187Lys) (rs727505069)

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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 RCV000156506 SCV000206225 uncertain significance not specified 2014-04-24 criteria provided, single submitter clinical testing The Glu187Lys variant in TNNI3 has not been previously identified in individuals with cardiomyopathy or in large population studies. Glutamic acid (Glu) at pos ition 187 is not conserved in evolution and the change to lysine (Lys) was predi cted to be benign using a computational tool clinically validated by our laborat ory. This tool's benign prediction is estimated to be correct 89% of the time (J ordan 2011). In summary, the available evidence raises the possibility that this variant may be benign but additional data is needed to rule out a role in disea se. The clinical significance of the Gly187Lys variant is uncertain.

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