ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1571G>A (p.Arg524His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047067 SCV001211001 pathogenic Glycogen storage disease type III 2019-12-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 524 of the AGL protein (p.Arg524His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs758182700, ExAC 0.002%). This variant has been observed in individual(s) with glycogen storage disease III (PMID: 16705713, 22089644, 26984562). It has also been observed to segregate with disease in related individuals. This variant has been reported to affect AGL protein function (PMID: 27088557). For these reasons, this variant has been classified as Pathogenic.

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