Submissions for variant NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)

gnomAD frequency: 0.01764  dbSNP: rs28730701

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246576	SCV000305374	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000324059	SCV000346065	benign	Glycogen storage disease type III	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	RCV000246576	SCV000518636	benign	not specified	2016-02-10	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	RCV000324059	SCV000626666	benign	Glycogen storage disease type III	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000324059	SCV000743615	likely benign	Glycogen storage disease type III	2014-10-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000324059	SCV002055053	benign	Glycogen storage disease type III	2021-07-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000675323	SCV003799211	benign	not provided	2023-10-31	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000324059	SCV000733935	benign	Glycogen storage disease type III		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675323	SCV000800988	likely benign	not provided	2017-03-14	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000324059	SCV001454504	benign	Glycogen storage disease type III	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000675323	SCV001798711	likely benign	not provided		no assertion criteria provided	clinical testing