ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.558G>T (p.Leu186=)

gnomAD frequency: 0.00036  dbSNP: rs141376085
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673250 SCV000798432 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV000673250 SCV001042985 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2023-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002462011 SCV002755601 likely benign Inborn genetic diseases 2022-09-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV000673250 SCV002809000 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2022-04-26 criteria provided, single submitter clinical testing

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