ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.462G>A (p.Met154Ile) (rs397516350)

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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 RCV000036296 SCV000059948 uncertain significance not specified 2012-09-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Met154Ile varia nt in TNNI3 has not been reported in the literature nor previously identified by our laboratory. Computational analyses (biochemical amino acid properties, cons ervation, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant may not impa ct the protein and 2 fish species carry this variant, suggesting that the change to isoleucine (Ile) may be tolerated. In summary, this variant is less liekly d isease causing but additional studies are needed to fully assess its clinical si gnificance.

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