ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3116A>T (p.His1039Leu)

gnomAD frequency: 0.00008  dbSNP: rs1430797073
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248543 SCV001422037 uncertain significance Glycogen storage disease type III 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 1039 of the AGL protein (p.His1039Leu). This variant is present in population databases (no rsID available, gnomAD 0.03%). 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: 972497). 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. 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.
Ambry Genetics RCV002568687 SCV003548079 uncertain significance Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing The c.3116A>T (p.H1039L) alteration is located in exon 24 (coding exon 23) of the AGL gene. This alteration results from a A to T substitution at nucleotide position 3116, causing the histidine (H) at amino acid position 1039 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001248543 SCV004050032 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001248543 SCV002094519 uncertain significance Glycogen storage disease type III 2020-03-17 no assertion criteria provided clinical testing

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