ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)

dbSNP: rs1553187237
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666365 SCV000790644 likely pathogenic Glycogen storage disease type III 2017-03-31 criteria provided, single submitter clinical testing
Mendelics RCV000666365 SCV001135376 pathogenic Glycogen storage disease type III 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000666365 SCV002055486 pathogenic Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000666365 SCV004215313 likely pathogenic Glycogen storage disease type III 2024-02-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666365 SCV004561123 pathogenic Glycogen storage disease type III 2023-03-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln820Leufs*15) in the AGL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 31508908). This variant is also known as c.2455_2458delAAAC. ClinVar contains an entry for this variant (Variation ID: 551333). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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