ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp)

gnomAD frequency: 0.00002  dbSNP: rs759982943
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001390823 SCV001592674 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 122 of the G6PC protein (p.Gly122Asp). This variant is present in population databases (rs759982943, gnomAD 0.02%). This missense change has been observed in individual(s) with glycogen storage disease type Ia (PMID: 10748407, 11196115, 15151508). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1076798). 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 G6PC protein function. Experimental studies have shown that this missense change affects G6PC function (PMID: 11739393). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001390823 SCV002093303 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2021-08-18 no assertion criteria provided clinical testing

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