ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1345A>T (p.Lys449Ter)

dbSNP: rs1060502815
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 RCV001851120 SCV002115196 likely pathogenic Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2017-06-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Likely Pathogenic. This variant leads to the truncation of the last 127 amino acids of the BAG3 protein. Different variants downstream of this truncation, p.Glu455Lys and Tyr451*, have been reported as being pathogenic (PMID:  (PMID: 2159883, 25008357, 25008357) indicating that this truncated region may be critical for protein function. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BAG3-related disease. This sequence change results in a premature translational stop signal in the last exon of the BAG3 mRNA at codon 449 (p.Lys449*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated BAG3 protein.

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.