ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.114del (p.Lys38fs)

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
Invitae RCV001319961 SCV001510727 uncertain significance Hypertrophic cardiomyopathy 2017-03-31 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 4 of the TNNI3 mRNA (c.114delA), causing a frameshift at codon 38. This creates a premature translational stop signal (p.Lys38Asnfs*12) and is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TNNI3-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TNNI3 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance.

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.