ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2270C>T (p.Ser757Leu)

gnomAD frequency: 0.00001  dbSNP: rs746130741
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540028 SCV000626692 uncertain significance Glycogen storage disease type III 2022-03-08 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 757 of the AGL protein (p.Ser757Leu). This variant is present in population databases (rs746130741, gnomAD 0.002%). 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: 456468). 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.
Natera, Inc. RCV000540028 SCV001454515 uncertain significance Glycogen storage disease type III 2020-09-16 no assertion criteria provided clinical testing

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