Submissions for variant NM_000642.3(AGL):c.1481G>A (p.Arg494His)

gnomAD frequency: 0.00743  dbSNP: rs141043166

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV003891857	SCV000305379	benign	AGL-related condition	2022-02-23	criteria provided, single submitter	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).
Eurofins Ntd Llc (ga)	RCV000244554	SCV000331433	benign	not specified	2016-08-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000280766	SCV000346070	likely benign	Glycogen storage disease type III	2018-03-06	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	RCV000244554	SCV000518668	benign	not specified	2016-04-25	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000244554	SCV000538243	likely benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in a patient with two other pathogenic variants, clinical significance is uncertain. Frequency 1.8%.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514363	SCV000610904	likely benign	not provided	2017-08-29	criteria provided, single submitter	clinical testing
Invitae	RCV000280766	SCV000626673	benign	Glycogen storage disease type III	2024-01-31	criteria provided, single submitter	clinical testing
Counsyl	RCV000280766	SCV000796705	likely benign	Glycogen storage disease type III	2017-12-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514363	SCV001147351	benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	AGL: BS1, BS2
Genome-Nilou Lab	RCV000280766	SCV002055528	likely benign	Glycogen storage disease type III	2021-07-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000514363	SCV004563064	benign	not provided	2023-10-23	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000514363	SCV000800992	likely benign	not provided	2017-11-22	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000280766	SCV001457972	benign	Glycogen storage disease type III	2019-12-31	no assertion criteria provided	clinical testing