Submissions for variant NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)

gnomAD frequency: 0.00237  dbSNP: rs36099971

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000513273	SCV000609114	uncertain significance	not provided	2017-03-01	criteria provided, single submitter	clinical testing
Counsyl	RCV000666996	SCV000791381	uncertain significance	Glycogen storage disease, type IV	2017-05-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080686	SCV001115023	likely benign	Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001149393	SCV001310342	benign	Adult polyglucosan body disease	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000666996	SCV001310343	benign	Glycogen storage disease, type IV	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000666996	SCV001368278	benign	Glycogen storage disease, type IV	2018-10-29	criteria provided, single submitter	clinical testing	This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
GeneDx	RCV000513273	SCV001947863	benign	not provided	2019-04-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27790088, 25133958, 31692161)
Natera, Inc.	RCV000666996	SCV001460905	benign	Glycogen storage disease, type IV	2020-01-13	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535652	SCV004728727	likely benign	GBE1-related disorder	2019-05-03	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).