ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.413G>A (p.Gly138Glu) (rs773384152)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067895 SCV001232978 uncertain significance Glycogen storage disease type III 2019-10-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 138 of the AGL protein (p.Gly138Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with glycogen storage disease (PMID: 20648714). This variant has been reported not to substantially affect AGL protein function (PMID: 27088557). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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