ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86393G>A (p.Arg28798Lys)

gnomAD frequency: 0.00001  dbSNP: rs781458689
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215302 SCV000272786 uncertain significance not specified 2015-03-30 criteria provided, single submitter clinical testing The p.Arg26230Lys variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/65408 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Comput ational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg26230Lys variant is uncertain.
Ambry Genetics RCV002354616 SCV002653738 uncertain significance Cardiovascular phenotype 2020-09-18 criteria provided, single submitter clinical testing The p.R19733K variant (also known as c.59198G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 59198. The arginine at codon 19733 is replaced by lysine, an amino acid with highly 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.