ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) (rs149210307)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529371 SCV000626694 likely benign Glycogen storage disease type III 2020-12-06 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585302 SCV000692641 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000529371 SCV000896097 uncertain significance Glycogen storage disease type III 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000529371 SCV001258889 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000585302 SCV001796781 likely benign not provided 2021-06-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25741868, 28492532)
Natera, Inc. RCV000529371 SCV001457980 uncertain significance Glycogen storage disease type III 2020-01-11 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000585302 SCV001749325 not provided not provided no assertion provided phenotyping only Variant interpreted as Likely benign and reported on 11-05-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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