ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1694A>G (p.Asn565Ser)

gnomAD frequency: 0.00006  dbSNP: rs180768312
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802824 SCV000942669 uncertain significance Glycogen storage disease type III 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 565 of the AGL protein (p.Asn565Ser). This variant is present in population databases (rs180768312, gnomAD 0.008%). 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: 648159). 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 with a negative predictive value of 80%. 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 RCV000802824 SCV002816119 uncertain significance Glycogen storage disease type III 2021-09-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000802824 SCV004049970 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000802824 SCV001454510 uncertain significance Glycogen storage disease type III 2020-09-16 no assertion criteria provided clinical testing

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