ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.368G>A (p.Arg123Gln) (rs199991063)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171875 SCV000050893 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV001049731 SCV001213799 uncertain significance Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2019-05-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 123 of the BAG3 protein (p.Arg123Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs199991063, ExAC 0.005%). This variant has been observed in combination with another BAG3 variant in an individual affected with acute myocarditis (PMID: 28359509). ClinVar contains an entry for this variant (Variation ID: 191606). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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