ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1408C>T (p.Pro470Ser)

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
Invitae RCV001046418 SCV001210322 likely pathogenic Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2019-12-04 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 470 of the BAG3 protein (p.Pro470Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with myofibrillar myopathy (PMID: 30559338). In at least one individual the variant was observed to be de novo. This variant has been reported to affect BAG3 protein function (PMID: 30559338). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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.