ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys) (rs397517600)

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, Partners HealthCare Personalized Medicine RCV000040315 SCV000064006 uncertain significance not specified 2015-03-11 criteria provided, single submitter clinical testing The p.Glu14250Lys variant in TTN has been identified by our laboratory in 1 Ashk enazi Jewish individual with HCM. This variant has also been identified in 0.04% (28/66612) of European chromosomes by the Exome Aggregation Consortium (ExAC, h ttp://exac.broadinstitute.org; dbSNP rs397517600). Computational prediction tool s and conservation analysis suggest that this variant may impact the protein, th ough this information is not predictive enough to determine pathogenicity. In su mmary, the clinical significance of the p.Glu14250Lys variant is uncertain.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726235 SCV000701310 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618209 SCV000735483 likely benign Cardiovascular phenotype 2018-11-23 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV001086999 SCV000764547 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000726235 SCV000982651 likely benign not provided 2021-03-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170833 SCV001333453 benign Cardiomyopathy 2018-05-02 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.