ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1846A>G (p.Ile616Val)

gnomAD frequency: 0.00014  dbSNP: rs371115206
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791656 SCV000930915 uncertain significance Glycogen storage disease type III 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 616 of the AGL protein (p.Ile616Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs371115206, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with AGL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Natera, Inc. RCV000791656 SCV002091515 uncertain significance Glycogen storage disease type III 2021-05-01 no assertion criteria provided clinical testing

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