ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.548A>C (p.Lys183Thr) (rs730881078)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159237 SCV000209183 pathogenic not provided 2014-02-15 criteria provided, single submitter clinical testing The K183T mutation in the TNNI3 gene has not been published as a mutation or as a benign polymorphism to our knowledge. K183T results in a semi-conservative amino acid substitution of a positively charged Lysine with a neutral Threonine at a position that is conserved across species. Other mutations at this residue (K183N, K183E) and in nearby residues (D180G, E182K, E184K, N185K) have been reported in association with cardiomyopathy, supporting the functional importance of this residue and this region of the protein. Furthermore, the K183T mutation was not observed inapproximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In silico algorithms are not consistent in their predictions but at least two concur that K183T is damaging to the protein structure/function. In summary, K183T in the TNNI3 gene is interpreted as a disease-causing mutation. The variant is found in HCM panel(s).

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