ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.480G>A (p.Trp160Ter)

dbSNP: rs776943352
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001912126 SCV002140846 pathogenic Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2024-01-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp160*) 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 (rs776943352, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with GBE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1376912). For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252715 SCV002522985 likely pathogenic See cases 2022-01-12 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2
Baylor Genetics RCV003464198 SCV004198725 likely pathogenic Glycogen storage disease, type IV 2024-03-03 criteria provided, single submitter clinical testing

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