ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.1634A>G (p.His545Arg)

dbSNP: rs137852889
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003764519 SCV004569776 likely pathogenic Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 545 of the GBE1 protein (p.His545Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with glycogen storage disease (PMID: 15452297). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2785). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GBE1 protein function with a positive predictive value of 95%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000002919 SCV000023077 pathogenic Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 2004-09-28 no assertion criteria provided literature only
GeneReviews RCV000056095 SCV000087167 pathologic Glycogen storage disease, type IV 2009-04-02 no assertion criteria provided curation Converted during submission to Pathogenic.

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