Submissions for variant NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)

gnomAD frequency: 0.00388  dbSNP: rs28763902

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247026	SCV000302752	likely benign	not specified	2016-04-13	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000247026	SCV000332946	benign	not specified	2015-07-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000307794	SCV000446304	likely benign	Glycogen storage disease, type IV	2018-01-13	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000364816	SCV000446305	likely benign	Adult polyglucosan body disease	2018-01-13	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000247026	SCV000520348	benign	not specified	2016-12-27	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.
Invitae	RCV000960638	SCV001107644	benign	Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic	2024-01-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500855	SCV002805311	likely benign	Adult polyglucosan body disease; Glycogen storage disease, type IV	2022-04-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003333974	SCV004042183	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	GBE1: PP3, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003333974	SCV004562807	likely benign	not provided	2023-08-23	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000307794	SCV002082386	likely benign	Glycogen storage disease, type IV	2019-12-10	no assertion criteria provided	clinical testing