ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter)

dbSNP: rs762602838
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Human Genetics RCV001293788 SCV001482487 pathogenic Glycogen storage disease type III 2019-08-04 criteria provided, single submitter clinical testing disease causing
Neuberg Centre For Genomic Medicine, NCGM RCV001293788 SCV002072864 likely pathogenic Glycogen storage disease type III criteria provided, single submitter clinical testing The stop gained p.Q1376* in AGL (NM_000642.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Q1376* variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.
Genome-Nilou Lab RCV001293788 SCV004050079 likely pathogenic Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing

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