ClinVar Miner

Submissions for variant NC_000003.12:g.(?_81490387)_(81761537_?)del

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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 RCV000804621 SCV000944538 pathogenic Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2018-09-05 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the GBE1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in GBE1-related conditions. Loss-of-function variants in GBE1 are known to be pathogenic (PMID: 9851430, 15452297, 20058079, 23034915). For these reasons, this variant has been classified as Pathogenic.

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