ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.549_551CTC[1] (p.Ser185del) (rs763170019)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465119 SCV000550854 uncertain significance Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2016-04-03 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 3 of the BAG3 mRNA (c.552_554delCTC). This leads to the deletion of 1 amino acid residue in the BAG3 protein (p.Ser185del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BAG3-related disease. In summary, this variant is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845434 SCV000987508 uncertain significance Familial dilated cardiomyopathy criteria provided, single submitter clinical testing

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