ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) (rs80338673)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043400 SCV001207144 pathogenic Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2019-11-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 524 of the GBE1 protein (p.Arg524Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs80338673, ExAC 0.006%). This variant has been observed in individual(s) with glycogen storage disease IV (PMID: 12874416, 10762170, 20479904, 15452297, 10545044). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 2782). 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). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002915 SCV000023073 pathogenic Glycogen storage disease IV, combined hepatic and myopathic 2004-09-28 no assertion criteria provided literature only
GeneReviews RCV000020162 SCV000040489 pathologic Glycogen storage disease, type IV 2009-04-02 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000150107 SCV000196931 pathogenic Adult polyglucosan body neuropathy 2004-09-28 no assertion criteria provided literature only

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