ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1417C>T (p.Arg473Ter) (rs199682693)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760914 SCV000890810 likely pathogenic not provided 2018-12-24 criteria provided, single submitter clinical testing The R473X likely pathogenic variant in the BAG3 gene has been reported in a patient diagnosed with dilated cardiomyopathy in infancy (Janin et al., 2017). This variant is predicted to cause loss of normal protein function by protein truncation as the last 102 amino acids are deleted. Other nonsense variants in the BAG3 gene have been reported in Human Gene Mutation Database in association with cardiomyopoathy (Stenson et al., 2014). Furthermore, the R473X variant is not observed in large population cohorts (Lek et al., 2016). In summary, R473X in the BAG3 gene is interpreted as a likely pathogenic variant.
Invitae RCV001056928 SCV001221395 uncertain significance Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2019-12-16 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BAG3 gene (p.Arg473*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 103 amino acids of the BAG3 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with dilated cardiomyopathy (PMID: 28436997). ClinVar contains an entry for this variant (Variation ID: 620529). Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256782 SCV001433226 likely pathogenic Dilated cardiomyopathy 1A 2019-08-28 criteria provided, single submitter clinical testing

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