ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1232_1234del (p.Gly411del) (rs761727804)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457258 SCV000550830 uncertain significance Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2018-10-11 criteria provided, single submitter clinical testing This variant, c.1232_1234delGAG, results in the deletion of 1 amino acid(s) of the BAG3 protein (p.Gly411del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs761727804, ExAC 0.08%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with BAG3-related disease. ClinVar contains an entry for this variant (Variation ID: 410228). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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 RCV000485546 SCV000571749 uncertain significance not specified 2016-09-29 criteria provided, single submitter clinical testing The c.1232_1234delGAG novel variant of uncertain significance in the BAG3 gene has not been published as a pathogenic or benign variant to our knowledge. This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1232_1234delGAG variant results in an in-frame deletion of a Glycine residue at codon 411, denoted p.G411del, and does not result in a shift in reading frame or a premature stop codon. Only one other in-frame deletion or insertion in the BAG3 gene has been reported in the Human Gene Mutation Database in association with DCM or myofibrillar myopathy. In the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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