ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.467C>G (p.Ala156Gly) (rs572038196)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156087 SCV000205800 uncertain significance not specified 2015-05-19 criteria provided, single submitter clinical testing The p.Ala156Gly variant in BAG3 has been identified by our laboratory in 1 infan t with DCM. It has also been identified in 3/9186 African chromosomes by the Exo me Aggregation Consortium (ExAC,; dbSNP rs5720381 96). Computational prediction tools and conservation analysis suggest that the v ariant may not impact the protein, though this information is not predictive eno ugh to rule out pathogenicity. In summary, the clinical significance of the p.Al a156Gly variant is uncertain.
Illumina Clinical Services Laboratory,Illumina RCV000322081 SCV000360570 likely benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379103 SCV000360571 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000559434 SCV000650664 uncertain significance Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2018-10-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 156 of the BAG3 protein (p.Ala156Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs572038196, ExAC 0.03%). This variant has not been reported in the literature in individuals with a BAG3-related disease. ClinVar contains an entry for this variant (Variation ID: 179298). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on BAG3 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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