ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.1618+1G>A

dbSNP: rs1703670302
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218759 SCV001390659 likely pathogenic Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2023-12-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 12 of the GBE1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GBE1 are known to be pathogenic (PMID: 15452297, 20058079). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of GBE1-related conditions (PMID: 31974414). ClinVar contains an entry for this variant (Variation ID: 947646). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV003462743 SCV004198666 likely pathogenic Glycogen storage disease, type IV 2023-10-16 criteria provided, single submitter clinical testing

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