ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.280A>G (p.Ile94Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002441677 SCV002747609 uncertain significance Cardiovascular phenotype 2021-07-22 criteria provided, single submitter clinical testing The p.I94V variant (also known as c.280A>G), located in coding exon 2 of the BAG3 gene, results from an A to G substitution at nucleotide position 280. The isoleucine at codon 94 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003102743 SCV003474982 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2024-10-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 94 of the BAG3 protein (p.Ile94Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BAG3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1796303). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BAG3 protein function with a negative predictive value of 80%. 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.
Revvity Omics, Revvity RCV003146571 SCV003829778 uncertain significance not provided 2021-06-11 criteria provided, single submitter clinical testing

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