ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.913G>A (p.Gly305Arg) (rs200154987)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000360148 SCV000342539 uncertain significance not provided 2016-12-19 criteria provided, single submitter clinical testing
Invitae RCV000806320 SCV000946310 uncertain significance Glycogen storage disease, type II 2018-12-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 305 of the GAA protein (p.Gly305Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs200154987, ExAC 0.2%). This variant has been observed in an individual affected with unexplained limb-girdle muscle weakness (PMID: 29149851). ClinVar contains an entry for this variant (Variation ID: 288431). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852729 SCV000995444 likely benign Cardiomyopathy 2017-03-14 criteria provided, single submitter clinical testing

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