ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.909_912del (p.Phe303fs)

dbSNP: rs2107059544
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001380106 SCV001578052 pathogenic Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2022-11-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1068507). This variant has not been reported in the literature in individuals affected with GBE1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe303Leufs*32) 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).
Baylor Genetics RCV003469645 SCV004198700 likely pathogenic Glycogen storage disease, type IV 2023-07-13 criteria provided, single submitter clinical testing

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