ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.211C>T (p.Arg71Trp) (rs387906874)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456156 SCV000550833 uncertain significance Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2018-11-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 71 of the BAG3 protein (p.Arg71Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs387906874, ExAC 0.06%) and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been reported in a single family affected with dilated cardiomyopathy (PMID: 21353195). ClinVar contains an entry for this variant (Variation ID: 30396). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics,Fulgent Genetics RCV000456156 SCV000894521 uncertain significance Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2018-10-31 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852638 SCV000995343 likely benign Dilated cardiomyopathy 2019-05-14 criteria provided, single submitter clinical testing
OMIM RCV000023349 SCV000044640 pathogenic Dilated cardiomyopathy 1HH 2011-03-11 no assertion criteria provided literature only

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