ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.579G>T (p.Lys193Asn) (rs397516358)

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 RCV000159244 SCV000209190 likely pathogenic not provided 2013-11-27 criteria provided, single submitter clinical testing The Lys193Asn variant in the TNNI3 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Lys193Asn results in a non-conservative amino acid substitution of a positively charged Lysine to a neutral, polar Asparagine at a position that is conserved across species. In silico analysis predicts Lys193Asn is probably damaging to the protein structure/function. Mutations in nearby residues (Asn185Lys, Arg186Gln, Asp190Gly, Arg192cys, Arg192His, and Ile195Met) have been reported in association with cardiomyopathy, further supporting the functional importance of this region of the protein. Furthermore, the Lys193Asn variant was not observed in approximately 6000 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, while Lys193Asn is a good candidate for a disease-causing mutation, with the clinical and molecular information available at this time we cannot unequivocally determine the clinical significance of this variant. 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.