ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1267_1276del (p.Leu423fs) (rs794728981)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183323 SCV000235754 pathogenic not provided 2013-12-20 criteria provided, single submitter clinical testing Although the c.1267_1276delCTGAAAGTGG mutation in the BAG3 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Leucine 423, changing it to an Lysine, and creating a premature stop codon at position 14 of the new reading frame, denoted p.Leu423LysfsX14. The normal sequence with the base that is deleted in braces is: AGTG{delCTGAAAGTGG}AAGC. This mutation is expected to cause an abnormal, truncated protein product. Other frameshift mutations in the BAG3 gene have been reported in association with dilated cardiomyopathy. Furthermore, c.1267_1276delCTGAAAGTGG was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant is found in BAG3 panel(s).
Ambry Genetics RCV000190668 SCV000244108 pathogenic Inborn genetic diseases 2014-05-29 criteria provided, single submitter clinical testing Other acmg-defined mutation (i.e. initiation codon or gross deletion)

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.