ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.127G>T (p.Ala43Ser) (rs727505023)

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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 RCV000156448 SCV000206167 uncertain significance not specified 2014-04-04 criteria provided, single submitter clinical testing The Ala43Ser variant in TNNI3 has not been previously reported in individuals wi th cardiomyopathy and data from large population studies is insufficient to asse ss its frequency. Alanine (Ala) at position 43 is highly conserved in evolution; however, this variant was predicted to be benign using a computational tool cli nically validated by our laboratory. This tool's benign prediction is estimated to be correct 89% of the time (Jordan 2011). Additional information is needed to fully assess the clinical significance of the Ala43Ser variant.

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