ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) (rs186624523)

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
Ambry Genetics RCV000619410 SCV000736543 uncertain significance Cardiovascular phenotype 2016-01-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Athena Diagnostics Inc RCV000713965 SCV000844617 likely benign not provided 2018-07-05 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769092 SCV000900465 uncertain significance Cardiomyopathy 2017-07-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000713965 SCV000700978 uncertain significance not provided 2018-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000154999 SCV000238168 likely benign not specified 2017-06-01 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154999 SCV000204681 likely benign not specified 2014-12-23 criteria provided, single submitter clinical testing p.Glu3692Lys in exon 45B of TTN: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, the chinchilla, bush-tailed rat, rabbit, and pika have a lysine (Lys) at t his position despite high nearby amino acid conservation. It has also been ident ified in 41/67642 European chromosomes by the Exome Aggregation Consortium (ExAC , http://exac.broadinstitute.org; dbSNP rs186624523).

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.