ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln)

gnomAD frequency: 0.00006  dbSNP: rs727503603
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
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 RCV000152312 SCV000201193 uncertain significance not specified 2013-11-12 criteria provided, single submitter clinical testing The Arg15455Gln variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational analyses are li mited or unavailable for this variant. Additional information is needed to fully assess the clinical significance of the Arg15455Gln variant.
Invitae RCV000553364 SCV000643353 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000152312 SCV000714638 likely benign not specified 2018-03-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000714052 SCV000844717 uncertain significance not provided 2017-12-20 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000714052 SCV000856438 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170605 SCV001333194 likely benign Cardiomyopathy 2018-03-29 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.