ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3532C>T (p.Pro1178Ser)

gnomAD frequency: 0.00003  dbSNP: rs769812980
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631132 SCV000752127 uncertain significance Glycogen storage disease type III 2022-05-15 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1178 of the AGL protein (p.Pro1178Ser). This variant is present in population databases (rs769812980, gnomAD 0.003%). 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: 526571). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV000631132 SCV002797578 uncertain significance Glycogen storage disease type III 2021-07-28 criteria provided, single submitter clinical testing
GeneDx RCV003318609 SCV004022579 uncertain significance not provided 2023-07-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000631132 SCV004050052 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000631132 SCV002094538 uncertain significance Glycogen storage disease type III 2019-10-28 no assertion criteria provided clinical testing

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