ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.2136del (p.Lys713fs)

dbSNP: rs1847527465
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001245789 SCV001419099 uncertain significance Myofibrillar myopathy 4 2019-07-12 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the LDB3 gene (p.Lys713Argfs*60). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acids of the LDB3 protein and extend the protein by an additional 44 amino acids. The LDB3 gene has multiple clinically relevant transcripts. The p.Lys713Argfs*60 variant occurs in alternate transcript NM_007078.2, which corresponds to c.*33554del in NM_001080116.1, the primary transcript listed in the Methods. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LDB3-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.