ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82404G>T (p.Lys27468Asn)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002351771 SCV002653576 uncertain significance Cardiovascular phenotype 2019-11-20 criteria provided, single submitter clinical testing The p.K18403N variant (also known as c.55209G>T), located in coding exon 153 of the TTN gene, results from a G to T substitution at nucleotide position 55209. The lysine at codon 18403 is replaced by asparagine, an amino acid with similar properties. This amino acid position is not well 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.
Revvity Omics, Revvity RCV003138200 SCV003822170 uncertain significance not provided 2020-10-08 criteria provided, single submitter clinical testing

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.