ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln)

gnomAD frequency: 0.00001  dbSNP: rs774619760
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001829301 SCV002097086 uncertain significance Glycogen storage disease, type IV 2022-01-27 criteria provided, single submitter curation The p.Arg565Gln variant in GBE1 has been reported in 1 compound heterozygous individual with adult polyglucosan body disease (APBD) (PMID: 23034915) and has been identified in 0.01% (3/22110) of African/African American chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP ID: rs774619760). Although this variant has been seen in the general population in a heterozygous state, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg565Gln variant is uncertain. ACMG/AMP Criteria applied: PP3, PM3_supporting (Richards 2015).
Baylor Genetics RCV001829301 SCV004198697 pathogenic Glycogen storage disease, type IV 2024-03-28 criteria provided, single submitter clinical testing

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