ClinVar Miner

Submissions for variant NM_000151.4(G6PC):c.809G>T (p.Gly270Val) (rs80356483)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000239699 SCV000486040 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2016-03-18 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000239699 SCV000492901 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2015-04-20 criteria provided, single submitter clinical testing
Invitae RCV000239699 SCV000829977 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2018-07-06 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 270 of the G6PC protein (p.Gly270Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs80356483, ExAC 0.003%). This variant has been reported to segregate with glycogen storage disease in a family and has been observed in homozygosis or combined with other G6PC variant in several individuals affected with this disease (PMID: 7573034, 8733042, 10234610, 28397058, 28659124). ClinVar contains an entry for this variant (Variation ID: 21063). Experimental studies have shown that this missense change reduces G6PC enzymatic activity (PMID: 7573034). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000239699 SCV001163790 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA criteria provided, single submitter clinical testing
National Center for Biotechnology Information, National Institutes of Health RCV000239699 SCV000298096 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2016-08-25 no assertion criteria provided literature only

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