ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) (rs137852888)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490013 SCV000577268 pathogenic not provided 2018-10-26 criteria provided, single submitter clinical testing The R524X nonsense variant in the GBE1 gene has been reported previously in association with glycogen storage disease IV in individuals who were heterozygous for R524X and another missense variant in the GBE1 gene (Bao et al., 1996; Bruno et al., 2004). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R524X variant is observed in 9/240692 alleles (0.004%) in large population cohorts (Lek et al., 2016). In summary, we interpret R524X to be a pathogenic variant.
Invitae RCV001052971 SCV001217211 pathogenic Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2020-09-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg524*) in the GBE1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs137852888, ExAC 0.003%). This variant has been observed in individuals affected with GBE1-related disease (PMID: 8613547, 15452297). ClinVar contains an entry for this variant (Variation ID: 2781). Loss-of-function variants in GBE1 are known to be pathogenic (PMID: 9851430, 15452297, 20058079, 23034915). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000056093 SCV001520378 pathogenic Glycogen storage disease, type IV 2019-04-30 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing in patients [PMID 8613547, 25525159] and is predicted to cause nonsense mediated decay
OMIM RCV000002913 SCV000023071 pathogenic Glycogen storage disease IV, classic hepatic 2004-09-28 no assertion criteria provided literature only
OMIM RCV000002914 SCV000023072 pathogenic Glycogen storage disease IV, childhood neuromuscular 2004-09-28 no assertion criteria provided literature only
GeneReviews RCV000056093 SCV000087164 pathologic Glycogen storage disease, type IV 2009-04-02 no assertion criteria provided curation Converted during submission to Pathogenic.
Natera, Inc. RCV000056093 SCV001460445 pathogenic Glycogen storage disease, type IV 2020-09-16 no assertion criteria provided clinical testing

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