ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.346A>G (p.Lys116Glu)

gnomAD frequency: 0.00037  dbSNP: rs377305989
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224885 SCV000281599 uncertain significance not provided 2015-11-23 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV001034188 SCV001197519 likely benign Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000224885 SCV001982954 uncertain significance not provided 2021-04-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV000224885 SCV002542061 uncertain significance not provided 2021-08-12 criteria provided, single submitter clinical testing

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