ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter) (rs771853367)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553978 SCV000626733 pathogenic Glycogen storage disease type III 2016-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1218 (p.Arg1218*) of 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. This particular variant has been reported in individuals affected with glycogen storage disease type III (PMID: 11977176). For these reasons, this variant has been classified as Pathogenic.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730413 SCV000858146 pathogenic not provided 2017-11-20 criteria provided, single submitter clinical testing
Counsyl RCV000553978 SCV000794122 pathogenic Glycogen storage disease type III 2017-09-14 no assertion criteria provided clinical testing

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