ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.168T>G (p.Ile56Met) (rs727503509)

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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 RCV000152090 SCV000200736 uncertain significance not specified 2015-01-29 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ile56Met vari ant in TNNI3 has not been previously reported in any other families with cardiom yopathy. Data from large population studies is insufficient to assess the freque ncy of this variant. Isoleucine (Ile) at position 56 is not conserved in mammals or evolutionarily distant species, and three mammals (squirrel, hedgehog and aa rdvark) has a methionine (Met) at this position, suggesting that this change is tolerated. In addition, the change to methionine was predicted to be benign usin g a computational tool clinically validated by our laboratory. This tool's benig n prediction is estimated to be correct 89% of the time (Jordan 2011). In summar y, while the clinical significance of the p.Ile56Met variant is uncertain, these data suggest that it is more likely to be benign.

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