Submissions for variant NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)

gnomAD frequency: 0.00569  dbSNP: rs35196441

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001705331	SCV000730032	benign	not provided	2020-06-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27790088, 26670585, 25133958, 31692161)
Counsyl	RCV000665935	SCV000790147	likely benign	Glycogen storage disease, type IV	2017-03-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000963132	SCV001110268	benign	Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001147158	SCV001307943	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	RCV000665935	SCV001308914	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	RCV000665935	SCV001367470	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000254002	SCV002103379	likely benign	not specified	2022-02-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705331	SCV002544822	benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	GBE1: BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002500853	SCV002807352	likely benign	Adult polyglucosan body disease; Glycogen storage disease, type IV	2021-07-23	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705331	SCV003799683	likely benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001705331	SCV005264136	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004732812	SCV000302739	benign	GBE1-related disorder	2024-06-21	no assertion criteria provided	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000254002	SCV002035019	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001705331	SCV002036111	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000665935	SCV002082398	likely benign	Glycogen storage disease, type IV	2019-11-11	no assertion criteria provided	clinical testing