ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2023C>T (p.Arg675Trp) (rs765749454)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778176 SCV000914335 uncertain significance Glycogen storage disease type III 2017-06-26 criteria provided, single submitter clinical testing The AGL c.2023C>T (p.Arg675Trp) missense variant has been reported in two studies in which it is found in a compound heterozygous state with a nonsense variant on the second allele in two unrelated patients with glycogen storage disease type III (GSD III) (Lucchiari et al. 2002; Ko et al. 2014). The p.Arg675Trp variant was absent from 120 control chromosomes (Lucchiari et al. 2002) and is reported at a frequency of 0.00002 in the European (non-Finnish) population of the Genome Aggregation Database, but this is based on two alleles in a region of good sequence coverage so the variant is presumed to be rare. The patient included in Lucchiari et al. (2014) study had no residual AGL activity. An in vitro enzyme activity assay using AGL from Candida glabrata showed that the Arg675Trp substitution only partially affected enzyme activity compared to wild type (Zhai et al. 2016). Based on the evidence, the p.Arg675Trp variant is classified as a variant of unknown significance but suspicious for pathogenicity for glycogen storage disease type III. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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