ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.224A>G (p.Asp75Gly)

gnomAD frequency: 0.00003  dbSNP: rs142368729
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690252 SCV000817933 uncertain significance Glycogen storage disease type III 2022-08-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 75 of the AGL protein (p.Asp75Gly). This variant is present in population databases (rs142368729, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with AGL-related conditions. ClinVar contains an entry for this variant (Variation ID: 569583). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. RCV000690252 SCV002091431 uncertain significance Glycogen storage disease type III 2019-10-28 no assertion criteria provided clinical testing

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