ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.55C>T (p.Arg19Cys) (rs727502896)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208446 SCV000263787 uncertain significance Primary dilated cardiomyopathy 2015-09-29 criteria provided, single submitter clinical testing
Invitae RCV000648827 SCV000770648 uncertain significance Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2017-12-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 19 of the BAG3 protein (p.Arg19Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs727502896, ExAC 0.002%). This variant has not been reported in the literature in individuals with BAG3-related disease. ClinVar contains an entry for this variant (Variation ID: 222509). 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: "Tolerated"; 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.

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