ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1169T>G (p.Val390Gly)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003319931 SCV004024032 uncertain significance not provided 2023-02-01 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; This variant is associated with the following publications: (PMID: 20001957)
PreventionGenetics, part of Exact Sciences RCV003396999 SCV004110142 uncertain significance BAG3-related disorder 2023-07-13 criteria provided, single submitter clinical testing The BAG3 c.1169T>G variant is predicted to result in the amino acid substitution p.Val390Gly. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003777315 SCV004574717 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2022-11-09 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 390 of the BAG3 protein (p.Val390Gly). This variant has not been reported in the literature in individuals affected with BAG3-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BAG3 protein function. 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.

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