ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001379867 SCV001577750 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2020-08-14 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 264 of the G6PC protein (p.Asn264Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with glycogen storage disease (PMID: 9506659). 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). 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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