ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3968C>T (p.Ser1323Leu)

gnomAD frequency: 0.00002  dbSNP: rs375493401
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001324734 SCV001515699 uncertain significance Glycogen storage disease type III 2022-06-03 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1323 of the AGL protein (p.Ser1323Leu). This variant is present in population databases (rs375493401, 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: 1024535). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
Natera, Inc. RCV001324734 SCV002094567 uncertain significance Glycogen storage disease type III 2020-08-20 no assertion criteria provided clinical testing

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