ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4462C>T (p.His1488Tyr)

gnomAD frequency: 0.00011  dbSNP: rs374651629
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701029 SCV000829811 uncertain significance Glycogen storage disease type III 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 1488 of the AGL protein (p.His1488Tyr). This variant is present in population databases (rs374651629, gnomAD 0.05%). 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: 578111). 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.
GeneDx RCV003156286 SCV003845579 uncertain significance not provided 2022-09-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000701029 SCV004050098 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000701029 SCV002094593 uncertain significance Glycogen storage disease type III 2019-10-28 no assertion criteria provided clinical testing

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