ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.388_400del (p.Met130fs)

dbSNP: rs1567705064
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000678678 SCV000804318 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2018-09-05 no assertion criteria provided clinical testing The observed variant c.388_400delATGGTCACATCTA has not been reported in 1000 Genomes and ExAC databases. The in silico prediction of the given variant is damaging by MutationTaster2.

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