ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.789G>A (p.Trp263Ter) (rs876657847)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218253 SCV000271913 uncertain significance not specified 2015-02-03 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Trp263X v ariant in LDB3 has not been reported in individuals with cardiomyopathy or in la rge population studies. This nonsense variant leads to a premature termination c odon at position 263, which is predicted to lead to a truncated or absent protei n. Variants LDB3 are associated with DCM as well as myopathy and emerging data s uggests that loss of function variants may be mild in the heterozygous state but associated with severe presentation in the homozygous state (LMM unpublished da ta). In summary, while there is some suspicion for a pathogenic role, the clinic al significance of the p.Trp263X variant is uncertain.

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.