Submissions for variant NM_000158.4(GBE1):c.405C>T (p.Leu135=)

gnomAD frequency: 0.00259  dbSNP: rs139882066

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000283225	SCV000446315	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.
Illumina Laboratory Services, Illumina	RCV000340436	SCV000446316	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.
GeneDx	RCV000967685	SCV000522307	likely benign	not provided	2021-02-23	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000437234	SCV000861423	likely benign	not specified	2018-05-21	criteria provided, single submitter	clinical testing
Invitae	RCV001083931	SCV001115091	benign	Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000967685	SCV001154002	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	GBE1: BP4, BP7, BS2
Genome-Nilou Lab	RCV000340436	SCV001653475	likely benign	Glycogen storage disease, type IV	2021-05-18	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000967685	SCV001922564	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000967685	SCV001966654	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000967685	SCV002035805	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000340436	SCV002082394	benign	Glycogen storage disease, type IV	2019-10-18	no assertion criteria provided	clinical testing