ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.652C>T (p.Arg218Trp) (rs397514506)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617935 SCV000735735 uncertain significance Cardiovascular phenotype 2017-01-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171829 SCV000054733 uncertain significance Cardiomyopathy, arrhythmogenic right ventricular dysplasia 2018-04-05 criteria provided, single submitter research
Invitae RCV000648836 SCV000770657 uncertain significance Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2018-06-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 218 of the BAG3 protein (p.Arg218Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs397514506, ExAC 0.06%). This variant has been reported in an individual affected with adult-onset dilated cardiomyopathy (PMID: 21898660). ClinVar contains an entry for this variant (Variation ID: 39464). Experimental studies have shown that this missense change impairs Z-disc assembly and increases sensitivity to apoptosis in vitro (PMID: 21898660). 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.
OMIM RCV000032660 SCV000056423 pathogenic Dilated cardiomyopathy 1HH 2011-12-01 no assertion criteria provided literature only

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