ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys)

gnomAD frequency: 0.00008  dbSNP: rs375254875
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552455 SCV000626736 uncertain significance Glycogen storage disease type III 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1233 of the AGL protein (p.Glu1233Lys). This variant is present in population databases (rs375254875, gnomAD 0.02%). 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: 456495). 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.
Fulgent Genetics, Fulgent Genetics RCV000552455 SCV000896098 uncertain significance Glycogen storage disease type III 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000552455 SCV002055445 uncertain significance Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002528306 SCV003690935 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The c.3697G>A (p.E1233K) alteration is located in exon 27 (coding exon 26) of the AGL gene. This alteration results from a G to A substitution at nucleotide position 3697, causing the glutamic acid (E) at amino acid position 1233 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003441918 SCV004170844 uncertain significance not provided 2023-10-16 criteria provided, single submitter clinical testing 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
Natera, Inc. RCV000552455 SCV002094555 uncertain significance Glycogen storage disease type III 2020-07-05 no assertion criteria provided clinical testing

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