ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.877G>A (p.Gly293Arg) (rs121907945)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728952 SCV000856579 pathogenic not provided 2018-01-25 criteria provided, single submitter clinical testing
Institute of Human Genetics,Klinikum rechts der Isar RCV000578430 SCV000680242 pathogenic Glycogen storage disease, type II 2017-11-16 criteria provided, single submitter clinical testing
Invitae RCV000578430 SCV000825724 pathogenic Glycogen storage disease, type II 2018-06-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 293 of the GAA protein (p.Gly293Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs121907945, ExAC 0.01%). This variant has been observed in individuals with low alpha-glucosidase enzyme activity (less than 40% of normal), findings that are highly specific for glycogen storage disease type II (Pubmed: 24590251, 22676651, Invitae). This variant has been observed to be homozygous or in combination with another GAA variant in individuals affected with glycogen storage disease type II (PMID: 14695532, 27344650, 29181627, 18607768, 17573812, 29122469, 15668445). ClinVar contains an entry for this variant (Variation ID: 4036). Experimental studies have shown that this missense change results in a GAA protein with severely reduced enzymatic activity (PMID: 14695532, 19862843). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004251 SCV000024417 pathogenic Glycogen storage disease II, adult form 2005-01-25 no assertion criteria provided literature only

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