ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.580del (p.Ser194fs) (rs1064795700)

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
GeneDx RCV000480131 SCV000571750 likely pathogenic not provided 2017-03-31 criteria provided, single submitter clinical testing Although the c.580delA likely pathogenic variant in the BAG3 gene has not been reported to our knowledge, thisvariant causes a shift in reading frame starting at codon Serine 194, changing it to an Alanine, and creating apremature stop codon at position 17 of the new reading frame, denoted p.S194AfsX17. This likely pathogenic variantis expected to result in either an abnormal, truncated protein product or loss of protein from this allele throughnonsense-mediated mRNA decay. Several other frameshift variants in the BAG3 gene have been reported in theHuman Gene Mutation Database in association with DCM (Stenson et al., 2014). Furthermore, the c.580delA variantwas not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, c.580delA in the BAG3 gene is expected to be pathogenic.

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.