ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2040+1G>C

dbSNP: rs1057516928
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001952864 SCV002214000 pathogenic Glycogen storage disease, type II 2021-05-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Disruption of this splice site has been observed in individual(s) affected with GAA-related conditions (PMID: 21926084, 27183828). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 14 of the GAA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GAA are known to be pathogenic (PMID: 18425781, 22252923).

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