ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4347+1G>A (rs1553193463)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539632 SCV000626755 pathogenic Glycogen storage disease type III 2017-07-07 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 32 of the AGL gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in at least one individual affected with glycogen storage disease (PMID: 26984562). Experimental studies have shown that this intronic change results in the out-of-frame skipping of exon 20 (PMID: 26984562). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000539632 SCV000797123 likely pathogenic Glycogen storage disease type III 2019-07-12 no assertion criteria provided clinical testing

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