ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.55C>T (p.Arg19Cys)

gnomAD frequency: 0.00001  dbSNP: rs727502896
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
Blueprint Genetics RCV000208446 SCV000263787 uncertain significance Primary dilated cardiomyopathy 2015-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000648827 SCV000770648 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2019-06-11 criteria provided, single submitter clinical testing This variant is present in population databases (rs727502896, ExAC 0.002%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BAG3-related disease. ClinVar contains an entry for this variant (Variation ID: 222509). This sequence change replaces arginine with cysteine at codon 19 of the BAG3 protein (p.Arg19Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine.

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.