ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.617A>T (p.Lys206Ile) (rs730881082)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159251 SCV000209197 pathogenic not provided 2013-04-03 criteria provided, single submitter clinical testing The Lys206Ile mutation in the TNNI3 gene has not been reported to our knowledge, a mutation affecting this same codon, Lys206Gln, has been reported in association with HCM. Additionally, mutations in nearby residues (Gly203Arg, Gly203Ser, Arg204Cys, Arg204His) have been reported in association with HCM, further supporting the functional importance of this codon and this region of the protein. Lys206Ile results in a non-conservative amino acid substitution of a positively charged Lysine with a non-polar Isoleucine at a position that is conserved across species. In silico analysis predicts Lys206Ile is damaging to the protein structure/function. Furthermore, Lys206Ile was not observed in approximately 6,000 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 summary, Lys206Ile in the TNNI3 gene is interpreted as a likely disease-causing mutation. The variant is found in HCM panel(s).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.