ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter)

gnomAD frequency: 0.00001  dbSNP: rs1567702823
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004605 SCV001163778 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001004605 SCV001440967 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2019-01-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001004605 SCV002051434 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2021-11-05 criteria provided, single submitter clinical testing Variant summary: G6PC c.209G>A (p.Trp70X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4e-06 in 251362 control chromosomes (gnomAD). c.209G>A has been reported in the literature in multiple compound heterozygous individuals affected with Glycogen Storage Disease Type Ia (examples: Keller_1998, Trioche_1999 and Miltenberger-Miltenyi_2005). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001004605 SCV002510591 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2023-09-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 813495). This premature translational stop signal has been observed in individual(s) with glycogen storage disease type Ia (PMID: 10447271). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp70*) in the G6PC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in G6PC are known to be pathogenic (PMID: 8182131).
Revvity Omics, Revvity RCV001004605 SCV003820010 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2022-11-10 criteria provided, single submitter clinical testing

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