ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.1716C>T (p.Asp572=)

gnomAD frequency: 0.01610  dbSNP: rs2229520
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000246309 SCV000302743 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380682 SCV000446288 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 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 RCV000272114 SCV000446289 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000246309 SCV000520670 benign not specified 2016-03-21 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 RCV001085055 SCV000752182 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 RCV002500854 SCV002811311 likely benign Adult polyglucosan body disease; Glycogen storage disease, type IV 2021-10-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000675503 SCV004563872 benign not provided 2023-11-06 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675503 SCV000801193 benign not provided 2017-05-17 no assertion criteria provided clinical testing
Natera, Inc. RCV000380682 SCV001460443 benign Glycogen storage disease, type IV 2020-09-16 no assertion criteria provided clinical testing

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