ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3451C>T (p.Arg1151Trp)

gnomAD frequency: 0.00009  dbSNP: rs370797337
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631128 SCV000752123 uncertain significance Glycogen storage disease type III 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1151 of the AGL protein (p.Arg1151Trp). This variant is present in population databases (rs370797337, gnomAD 0.04%). 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: 526567). 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 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.
Fulgent Genetics, Fulgent Genetics RCV000631128 SCV002787188 uncertain significance Glycogen storage disease type III 2021-07-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002528852 SCV003590864 uncertain significance Inborn genetic diseases 2022-07-08 criteria provided, single submitter clinical testing The c.3451C>T (p.R1151W) alteration is located in exon 26 (coding exon 25) of the AGL gene. This alteration results from a C to T substitution at nucleotide position 3451, causing the arginine (R) at amino acid position 1151 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000631128 SCV004050049 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000631128 SCV002094534 uncertain significance Glycogen storage disease type III 2019-10-28 no assertion criteria provided clinical testing

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