ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.261A>G (p.Gln87=) (rs370304606)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421179 SCV000533581 likely benign not specified 2016-11-01 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 RCV000535859 SCV000626703 uncertain significance Glycogen storage disease type III 2019-05-10 criteria provided, single submitter clinical testing This sequence change affects codon 87 of the AGL mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the AGL protein. This variant is present in population databases (rs370304606, ExAC 0.003%) but has not been reported in the literature in individuals with an AGL-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000535859 SCV001452900 uncertain significance Glycogen storage disease type III 2020-01-17 no assertion criteria provided clinical testing

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