ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71347C>T (p.Arg23783Cys)

gnomAD frequency: 0.00001  dbSNP: rs754516257
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
Invitae RCV000548828 SCV000643616 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002330895 SCV002633369 uncertain significance Cardiovascular phenotype 2020-06-30 criteria provided, single submitter clinical testing The p.R14718C variant (also known as c.44152C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 44152. The arginine at codon 14718 is replaced by cysteine, an amino acid with highly dissimilar 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.