ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1054A>G (p.Ile352Val)

dbSNP: rs1651360894
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240814 SCV001413789 uncertain significance Glycogen storage disease type III 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 352 of the AGL protein (p.Ile352Val). This variant is not present in population databases (gnomAD no frequency). 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: 966194). 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.
Fulgent Genetics, Fulgent Genetics RCV001240814 SCV002785793 uncertain significance Glycogen storage disease type III 2022-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001240814 SCV004049947 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001240814 SCV002091472 uncertain significance Glycogen storage disease type III 2021-04-15 no assertion criteria provided clinical testing

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