ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)

dbSNP: rs780226142
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169104 SCV000220300 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2014-05-08 criteria provided, single submitter literature only
Eurofins NTD LLC (GA) RCV000726277 SCV000343386 pathogenic not provided 2016-06-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000169104 SCV001163791 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000169104 SCV001363567 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2021-03-08 criteria provided, single submitter clinical testing Variant summary: G6PC c.969C>A (p.Tyr323X) results in a premature termination codon, predicted to cause a truncation of the encoded protein. The variant was absent in 251410 control chromosomes (gnomAD). c.969C>A has been reported in the literature in individuals affected with Glycogen Storage Disease Type Ia (Calderaro_2013, Sperb-Ludwig_2019). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two other ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Invitae RCV000169104 SCV001406031 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2021-09-01 criteria provided, single submitter clinical testing

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