ClinVar Miner

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

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Total submissions: 1
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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 2020-06-19 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 122 of the G6PC protein (p.Gly122Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs759982943, ExAC 0.01%). This variant has been observed in individual(s) with glycogen storage disease type Ia (PMID: 11196115, 15151508, 10748407). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant has been reported to affect G6PC protein function (PMID: 11739393). For these reasons, this variant has been classified as Pathogenic.

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