Submissions for variant NM_000158.4(GBE1):c.568A>G (p.Arg190Gly)

gnomAD frequency: 0.29724  dbSNP: rs2229519

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178721	SCV000230862	benign	not specified	2014-06-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000178721	SCV000302749	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000318439	SCV000446313	benign	Glycogen storage disease, type IV	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000375379	SCV000446314	benign	Adult polyglucosan body disease	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000178721	SCV000513122	benign	not specified	2015-12-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics	RCV000318439	SCV001136553	benign	Glycogen storage disease, type IV	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516921	SCV001725295	benign	Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic	2024-02-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000318439	SCV001738535	benign	Glycogen storage disease, type IV	2021-06-15	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000375379	SCV001738536	benign	Adult polyglucosan body disease	2021-06-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000318439	SCV001933754	benign	Glycogen storage disease, type IV	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000375379	SCV001933755	benign	Adult polyglucosan body disease	2021-08-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675509	SCV005299943	benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000675509	SCV000801200	benign	not provided	2015-10-20	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000318439	SCV001461488	benign	Glycogen storage disease, type IV	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000178721	SCV001923162	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000178721	SCV001931761	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000178721	SCV001956119	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000178721	SCV001972365	benign	not specified		no assertion criteria provided	clinical testing