ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.231-1G>A (rs1555559279)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664578 SCV000788565 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2017-04-24 criteria provided, single submitter clinical testing
Invitae RCV000664578 SCV001582072 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2020-08-24 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 1 of the G6PC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with glycogen storage disease type Ia (PMID: 10748407, Invitae). 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 is also known as IVS1-1G>A. ClinVar contains an entry for this variant (Variation ID: 549978). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 10748407). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in G6PC are known to be pathogenic (PMID: 8182131). For these reasons, this variant has been classified as Pathogenic.

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