ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3084-5T>G

gnomAD frequency: 0.00001  dbSNP: rs886178367
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248137 SCV001421604 uncertain significance Glycogen storage disease type III 2023-12-10 criteria provided, single submitter clinical testing This sequence change falls in intron 23 of the AGL gene. It does not directly change the encoded amino acid sequence of the AGL protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AGL-related conditions. ClinVar contains an entry for this variant (Variation ID: 972168). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001248137 SCV002094518 uncertain significance Glycogen storage disease type III 2020-01-17 no assertion criteria provided clinical testing

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