ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter)

dbSNP: rs2056043532
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001219477 SCV001391418 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2022-10-28 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with glycogen storage disease type 1 (PMID: 11161844). This sequence change creates a premature translational stop signal (p.Gln104*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 948256).
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital RCV001219477 SCV001739505 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2020-02-28 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV001219477 SCV002521355 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000948256). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Natera, Inc. RCV001219477 SCV002093301 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2017-03-17 no assertion criteria provided clinical testing

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