ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1240G>T (p.Glu414Ter) (rs117749531)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458004 SCV000550853 likely pathogenic Dilated cardiomyopathy 1HH 2016-09-14 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the BAG3 mRNA at codon 414 (p.Glu414*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 162 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, 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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