ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.251dup (p.Asn84fs)

dbSNP: rs756175624
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696480 SCV000825043 pathogenic Glycogen storage disease type III 2023-08-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 574527). This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 27106217). This variant is present in population databases (rs756175624, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Asn84Lysfs*17) 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).
Baylor Genetics RCV000696480 SCV004211035 pathogenic Glycogen storage disease type III 2023-09-09 criteria provided, single submitter clinical testing

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