ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1481G>A (p.Arg494His) (rs141043166)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244554 SCV000305379 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000244554 SCV000331433 benign not specified 2016-08-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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, Partners HealthCare 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 2020-12-05 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 Praxis fuer Humangenetik Tuebingen RCV000514363 SCV001147351 uncertain significance not provided 2016-06-01 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

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