ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3011del (p.Pro1004fs)

dbSNP: rs1057516306
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410491 SCV000485446 likely pathogenic Glycogen storage disease type III 2015-12-11 criteria provided, single submitter clinical testing
Invitae RCV000410491 SCV000945095 pathogenic Glycogen storage disease type III 2018-10-31 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). This variant has not been reported in the literature in individuals with AGL-related disease. ClinVar contains an entry for this variant (Variation ID: 370197). This sequence change creates a premature translational stop signal (p.Pro1004Hisfs*8) in the AGL gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab RCV000410491 SCV002055493 pathogenic Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410491 SCV004215335 likely pathogenic Glycogen storage disease type III 2023-05-15 criteria provided, single submitter clinical testing

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