ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66863G>A (p.Arg22288His)

gnomAD frequency: 0.00003  dbSNP: rs537871205
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549997 SCV000643553 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593931 SCV000702545 uncertain significance not provided 2016-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358517 SCV002623047 uncertain significance Cardiovascular phenotype 2020-04-29 criteria provided, single submitter clinical testing The p.R13223H variant (also known as c.39668G>A), located in coding exon 144 of the TTN gene, results from a G to A substitution at nucleotide position 39668. The arginine at codon 13223 is replaced by histidine, 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.