ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2223_2224del (p.Gln741fs)

dbSNP: rs1553186613
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672661 SCV000797788 likely pathogenic Glycogen storage disease type III 2018-02-13 criteria provided, single submitter clinical testing
3billion RCV000672661 SCV003841823 pathogenic Glycogen storage disease type III 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with AGL related disorder (ClinVar ID: VCV000556632 / PMID: 19754354). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Genome-Nilou Lab RCV000672661 SCV004049999 likely pathogenic Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000672661 SCV005057496 pathogenic Glycogen storage disease type III 2024-02-14 criteria provided, single submitter clinical testing

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