ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys)

gnomAD frequency: 0.00011  dbSNP: rs368932767
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000734327 SCV000727838 likely benign not provided 2021-01-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32880476)
Labcorp Genetics (formerly Invitae), Labcorp RCV000643766 SCV000765453 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734327 SCV000862458 uncertain significance not provided 2018-07-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798924 SCV002043065 uncertain significance Cardiomyopathy 2021-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377318 SCV002667694 uncertain significance Cardiovascular phenotype 2019-10-15 criteria provided, single submitter clinical testing The p.R22007C variant (also known as c.66019C>T), located in coding exon 166 of the TTN gene, results from a C to T substitution at nucleotide position 66019. The arginine at codon 22007 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.
Revvity Omics, Revvity RCV000734327 SCV003819709 uncertain significance not provided 2023-08-14 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000734327 SCV002034626 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000734327 SCV002037404 uncertain significance not provided no assertion criteria provided 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.