ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1100C>G (p.Pro367Arg) (rs786205347)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171879 SCV000054735 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000171879 SCV000536637 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the BAG3 gene. The P367R variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P367R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, to our knowledge no studies have been performed to determine the functional effect of the P367R variant. Furthermore, this substitution occurs at a position that is not conserved across species.
Invitae RCV001206086 SCV001377376 uncertain significance Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2019-08-14 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 367 of the BAG3 protein (p.Pro367Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BAG3-related conditions. ClinVar contains an entry for this variant (Variation ID: 191610). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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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