ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51411T>G (p.Asn17137Lys)

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
Ambry Genetics RCV002459794 SCV002736027 uncertain significance Cardiovascular phenotype 2020-01-16 criteria provided, single submitter clinical testing The p.N8072K variant (also known as c.24216T>G), located in coding exon 98 of the TTN gene, results from a T to G substitution at nucleotide position 24216. The asparagine at codon 8072 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.