ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter)

dbSNP: rs2056081522
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193577 SCV001362496 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2019-10-17 criteria provided, single submitter clinical testing Variant summary: G6PC c.479G>A (p.Trp160X) 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 (eg. c.508C>T (p.Arg170X), c.1039C>T (p.Gln347X)). The variant was absent in 251484 control chromosomes (gnomAD). c.479G>A has been reported in the literature at least in an individual affected with Glycogen Storage Disease Type Ia (Xu_2010). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Natera, Inc. RCV001193577 SCV002093308 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2021-01-26 no assertion criteria provided clinical testing

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