ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.619A>G (p.Lys207Glu) (rs727503511)

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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 RCV000152099 SCV000200754 uncertain significance not specified 2014-03-21 criteria provided, single submitter clinical testing The Lys200Glu variant in TNNT2 has not been reported in individuals with cardiom yopathy. Data from large population studies is insufficient to assess the freque ncy of this variant. This variant was predicted to be benign using a computation al tool clinically validated by our laboratory. This tool's benign prediction is estimated to be correct 89% of the time (Jordan 2011). Additional computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, additional information is needed to fully assess the clinical significance of the Lys200Glu variant.

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