ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln)

gnomAD frequency: 0.00010  dbSNP: rs200146608
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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 RCV000152243 SCV000201050 uncertain significance not specified 2014-05-09 criteria provided, single submitter clinical testing The Arg19914Gln variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 2/3800 African American chromosom es by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbS NP rs200146608). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Arg19914Gln variant is uncertain.
GeneDx RCV001704098 SCV000237456 likely benign not provided 2020-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000552973 SCV000643562 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354350 SCV002622345 uncertain significance Cardiovascular phenotype 2019-11-01 criteria provided, single submitter clinical testing The p.R13417Q variant (also known as c.40250G>A), located in coding exon 146 of the TTN gene, results from a G to A substitution at nucleotide position 40250. The arginine at codon 13417 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is 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 RCV001704098 SCV003820202 uncertain significance not provided 2021-12-19 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.