ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1889-7C>G

gnomAD frequency: 0.00001  dbSNP: rs765713320
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001299107 SCV001488186 uncertain significance Glycogen storage disease, type II 2022-05-21 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the GAA gene. It does not directly change the encoded amino acid sequence of the GAA protein. This variant is present in population databases (rs765713320, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with GAA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1002651). 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. RCV001299107 SCV002092076 uncertain significance Glycogen storage disease, type II 2021-08-25 no assertion criteria provided clinical testing

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