ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3927T>A (p.His1309Gln)

dbSNP: rs1200885928
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243191 SCV001416331 uncertain significance Glycogen storage disease type III 2022-07-30 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1309 of the AGL protein (p.His1309Gln). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 968128). 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 create or strengthen a 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001507967 SCV001713833 uncertain significance not provided 2020-06-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001243191 SCV002055447 uncertain significance Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001243191 SCV002094565 uncertain significance Glycogen storage disease type III 2020-01-24 no assertion criteria provided clinical testing

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