ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.808C>T (p.Gln270Ter)

gnomAD frequency: 0.00001  dbSNP: rs559653237
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001381687 SCV001580180 pathogenic Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2020-06-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GBE1 are known to be pathogenic (PMID: 15452297, 20058079). This variant has not been reported in the literature in individuals with GBE1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln270*) in the GBE1 gene. It is expected to result in an absent or disrupted protein product.
Revvity Omics, Revvity RCV001780306 SCV002024209 pathogenic not provided 2020-06-17 criteria provided, single submitter clinical testing

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