ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.1883A>G (p.His628Arg) (rs137852891)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000056098 SCV000915065 uncertain significance Glycogen storage disease, type IV 2018-03-29 criteria provided, single submitter clinical testing The GBE1 c.1883A>G (p.His628Arg) missense variant has been reported in two studies and is found in a compound heterozygous state in two individuals with glycogen storage disease type IV (Bruno et al. 2004; Kuhn et al. 2016). These individuals exhibited reduced glycogen branching enzyme activity at 15% and 35% respectively, when compared to controls. The p.His628Arg variant was absent from 96 control chromosomes (Bruno et al. 2004) and is reported at a frequency of 0.000015 in the European (non-Finnish) population of the Exome Aggregation Consortium, but this is based on one allele so the variant is presumed to be rare. Based on the evidence, the p.His628Arg variant is classified as a variant of unknown significance but suspicious for pathogenicity for glycogen storage disease type IV. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092351 SCV001248810 pathogenic not provided 2017-04-01 criteria provided, single submitter clinical testing
OMIM RCV000002922 SCV000023080 pathogenic Glycogen storage disease IV, childhood neuromuscular 2004-09-28 no assertion criteria provided literature only
GeneReviews RCV000056098 SCV000087170 pathologic Glycogen storage disease, type IV 2009-04-02 no assertion criteria provided curation Converted during submission to Pathogenic.

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