ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1126C>T (p.Pro376Ser)

dbSNP: rs1180366101
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003771848 SCV004580953 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2023-01-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1284504). 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. This variant has not been reported in the literature in individuals affected with BAG3-related conditions. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 376 of the BAG3 protein (p.Pro376Ser). This variant is present in population databases (no rsID available, gnomAD 0.0009%).
GeneDx RCV001699660 SCV005379755 uncertain significance not provided 2023-12-01 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)
Clinical Genetics, Academic Medical Center RCV001699660 SCV001925470 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699660 SCV001973724 uncertain significance not provided no assertion criteria provided clinical testing

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