ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2681+1G>T (rs201201443)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411544 SCV000486904 pathogenic Glycogen storage disease type III 2016-08-31 criteria provided, single submitter clinical testing
Centre for Human Genetics RCV000411544 SCV001482494 pathogenic Glycogen storage disease type III 2020-06-15 criteria provided, single submitter clinical testing disease causing
Invitae RCV000411544 SCV001592637 pathogenic Glycogen storage disease type III 2020-07-07 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 20 of the AGL gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs201201443, ExAC 0.009%). Disruption of this splice site has been observed in individual(s) with glycogen storage disease type III (PMID: 31028654, 10472540). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 371344). Experimental studies have shown that disruption of this splice site impacts mRNA splicing (PMID: 31028654, 10472540). 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.

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