ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1161dup (p.Lys388fs) (rs1554877765)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540680 SCV000650657 likely pathogenic Dilated cardiomyopathy 1HH 2017-05-22 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 4 of the BAG3 mRNA (c.1161dupC), causing a frameshift at codon 388. This creates a premature translational stop signal in the last exon of the BAG3 mRNA (p.Lys388Glnfs*56). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 188 amino acids of the BAG3 protein. Different variants downstream of this truncation, p.Glu455Lys and Tyr451*, have been determined to be pathogenic (PMID: (PMID: 2159883, 25008357), indicating that truncation of the BAG3 protein at this position is causative of disease. For these reasons, this variant has been classified as Likely Pathogenic.

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