Submissions for variant NM_000151.4(G6PC1):c.-77G>A

gnomAD frequency: 0.00919  dbSNP: rs145752565

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001123371	SCV001282206	likely benign	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV001123371	SCV001728365	benign	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	2023-11-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001786438	SCV002028402	likely benign	not provided	2021-05-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15918042)
CeGaT Center for Human Genetics Tuebingen	RCV001786438	SCV002498276	benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	G6PC1: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003928725	SCV004743361	benign	G6PC1-related condition	2019-07-10	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).