ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.1592G>A (p.Gly531Asp)

dbSNP: rs2106933633
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002026900 SCV002314303 uncertain significance Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 531 of the GBE1 protein (p.Gly531Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (gnomAD no frequency). 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: 1516847). 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 expected to disrupt GBE1 protein function with a positive predictive value of 95%. 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.

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