ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.30A>T (p.Leu10Phe)

gnomAD frequency: 0.00003  dbSNP: rs746137555
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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 RCV000529938 SCV000626717 uncertain significance Glycogen storage disease type III 2024-01-16 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 10 of the AGL protein (p.Leu10Phe). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 456483). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. RCV000529938 SCV002091417 uncertain significance Glycogen storage disease type III 2020-10-15 no assertion criteria provided clinical testing

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