ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.401A>G (p.Asp134Gly) (rs727503505)

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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 RCV000152084 SCV000200723 uncertain significance not specified 2013-04-21 criteria provided, single submitter clinical testing The Asp134Gly variant in TNNI3 has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information i s needed to fully assess the clinical significance of the Asp134Gly variant.

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