ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu) (rs1189630738)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673256 SCV000798438 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV000673256 SCV001222587 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2019-11-28 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with leucine at codon 156 of the G6PC protein (p.Trp156Leu). The tryptophan residue is highly conserved and there is a small physicochemical difference between tryptophan and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with glycogen storage disease type 1a (PMID: 28397058, 10612834). ClinVar contains an entry for this variant (Variation ID: 557154). This variant has been reported to affect G6PC protein function (PMID: 11739393). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Natera, Inc. RCV000673256 SCV001463400 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2020-09-16 no assertion criteria provided clinical testing

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