ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.2T>G (p.Met1Arg)

dbSNP: rs1846841605
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
Invitae RCV001209747 SCV001381197 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2019-08-11 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the BAG3 mRNA. The next in-frame methionine is located at codon 9. This variant is not present in population databases (ExAC no frequency). 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. This variant has not been reported in the literature in individuals with BAG3-related conditions.
CeGaT Center for Human Genetics Tuebingen RCV003393887 SCV004134739 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing BAG3: PM2

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.