ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1050G>A (p.Met350Ile)

gnomAD frequency: 0.00001  dbSNP: rs140872573
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000382009 SCV000346063 uncertain significance Glycogen storage disease type III 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000382009 SCV000943163 uncertain significance Glycogen storage disease type III 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 350 of the AGL protein (p.Met350Ile). This variant is present in population databases (rs140872573, gnomAD 0.02%). 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: 291329). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt AGL protein function. 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.
Genome-Nilou Lab RCV000382009 SCV002055094 uncertain significance Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000382009 SCV002091471 uncertain significance Glycogen storage disease type III 2021-10-18 no assertion criteria provided clinical testing

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