ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.282+5C>G (rs770260866)

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 RCV000227042 SCV000284655 uncertain significance Hypertrophic cardiomyopathy 2016-01-01 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the TNNI3 mRNA. It does not directly change the encoded amino acid sequence of the TNNI3 protein. Nucleotide substitutions at +5 position of the intron are relatively common causes of aberrant splicing (PMID: 17576681) but according to multiple splice site algorithms this particular variant is not predicted to significantly affect splicing. These predictions have not been confirmed by published functional studies. In summary, this is a novel intronic change that is not predicted to affect splicing or cause disease. It 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.