ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.589G>A (p.Gly197Ser)

gnomAD frequency: 0.00001  dbSNP: rs750426195
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003807392 SCV004608735 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2023-09-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 197 of the BAG3 protein (p.Gly197Ser). This variant is present in population databases (rs750426195, gnomAD 0.002%). 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.
GeneDx RCV004780659 SCV005388708 uncertain significance not provided 2024-04-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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