ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.288del (p.Gly97fs)

dbSNP: rs1057517315
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409231 SCV000487088 pathogenic Glycogen storage disease, type IV 2016-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000706367 SCV000835411 pathogenic Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2023-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly97Glufs*46) in the GBE1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GBE1 are known to be pathogenic (PMID: 15452297, 20058079). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with glycogen storage disease (PMID: 12913206, 21917543). ClinVar contains an entry for this variant (Variation ID: 371491). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003137987 SCV003818102 pathogenic not provided 2022-09-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV000409231 SCV004198737 pathogenic Glycogen storage disease, type IV 2022-10-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005027465 SCV005657844 pathogenic Adult polyglucosan body disease; Glycogen storage disease, type IV 2024-01-27 criteria provided, single submitter clinical testing

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