ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro)

gnomAD frequency: 0.00006  dbSNP: rs761908536
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631178 SCV000752179 uncertain significance Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 663 of the GBE1 protein (p.Leu663Pro). This variant is present in population databases (rs761908536, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with GBE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 526615). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GBE1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV000998105 SCV001154000 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563832 SCV001786868 uncertain significance Glycogen storage disease, type IV 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563833 SCV001786869 uncertain significance Adult polyglucosan body disease 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001563832 SCV002082372 uncertain significance Glycogen storage disease, type IV 2019-10-28 no assertion criteria provided clinical testing

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