ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter)

dbSNP: rs1555559991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674590 SCV000799952 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2018-05-14 criteria provided, single submitter clinical testing
Invitae RCV000674590 SCV001378072 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2019-05-31 criteria provided, single submitter clinical testing This variant has been observed in an individual affected with glycogen storage disease (PMID: 10070617). ClinVar contains an entry for this variant (Variation ID: 558339). This sequence change creates a premature translational stop signal (p.Tyr172*) in the G6PC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in G6PC are known to be pathogenic (PMID: 8182131). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000674590 SCV002093312 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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