ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.173G>T (p.Gly58Val)

dbSNP: rs138785335
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648829 SCV000770650 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2024-03-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 58 of the BAG3 protein (p.Gly58Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of autosomal dominant BAG3-related myopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 539152). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
GeneDx RCV001766399 SCV001988796 uncertain significance not provided 2022-09-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004751645 SCV005363898 uncertain significance BAG3-related disorder 2024-03-28 no assertion criteria provided clinical testing The BAG3 c.173G>T variant is predicted to result in the amino acid substitution p.Gly58Val. This variant was reported as a variant of uncertain significance associated with BAG3-associated disorders (Table S1, Qu et al. 2022. PubMed ID: 36382946). This variant is reported in 0.0011% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.