ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3554del (p.Thr1185fs) (rs764318570)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409329 SCV000486321 likely pathogenic Glycogen storage disease type III 2016-05-11 criteria provided, single submitter clinical testing
Invitae RCV000409329 SCV000835741 pathogenic Glycogen storage disease type III 2019-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1185Lysfs*42) in the AGL gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs764318570, ExAC 0.01%). This variant was reported in an individual affected with glycogen storage disease type III, but no second allele was reported (PMID: 20648714).  ClinVar contains an entry for this variant (Variation ID: 370894). Loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). For these reasons, this variant has been classified as Pathogenic.

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