ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.608_609del (p.His203fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003810507 SCV004610456 pathogenic Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2023-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His203Argfs*7) 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 present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with GBE1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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