ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.22del (p.Arg8fs)

gnomAD frequency: 0.00001  dbSNP: rs1215043175
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674111 SCV000799387 likely pathogenic Glycogen storage disease type III 2018-04-20 criteria provided, single submitter clinical testing
Invitae RCV000674111 SCV000835246 pathogenic Glycogen storage disease type III 2023-07-22 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg8Glufs*5) 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 has not been reported in the literature in individuals affected with AGL-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 557911).
Genome-Nilou Lab RCV000674111 SCV002055457 pathogenic Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000674111 SCV001454493 pathogenic Glycogen storage disease type III 2020-09-16 no assertion criteria provided clinical testing

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