ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.846+8T>A (rs372517543)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537803 SCV000626769 uncertain significance Glycogen storage disease type III 2019-11-14 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the AGL gene. It does not directly change the encoded amino acid sequence of the AGL protein. This variant is present in population databases (rs372517543, ExAC 0.008%) but has not been reported in the literature in individuals with an AGL-related disease. Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this intronic variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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