ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2357C>T (p.Thr786Met)

gnomAD frequency: 0.00004  dbSNP: rs147586981
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217663 SCV001389512 uncertain significance Glycogen storage disease type III 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 786 of the AGL protein (p.Thr786Met). This variant is present in population databases (rs147586981, gnomAD 0.007%). 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: 946738). 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 RCV001545842 SCV001765250 uncertain significance not provided 2021-02-01 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001217663 SCV002055111 uncertain significance Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001217663 SCV002785631 uncertain significance Glycogen storage disease type III 2021-07-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001217663 SCV002091540 uncertain significance Glycogen storage disease type III 2020-08-27 no assertion criteria provided clinical testing

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