ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.323C>T (p.Thr108Ile) (rs1597988331)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807151 SCV000947190 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2018-08-16 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 108 of the G6PC protein (p.Thr108Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be in combination with another G6PC variant in individuals affected with glycogen storage disease (PMID: 10447271, 28397058) and it has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with this condition (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Experimental studies have shown that this missense change abrogates G6PC enzyme activity (PMID: 11739393). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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