ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3437C>T (p.Ala1146Val)

gnomAD frequency: 0.00003  dbSNP: rs867496787
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001367104 SCV001563440 uncertain significance Glycogen storage disease type III 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1146 of the AGL protein (p.Ala1146Val). This variant is not present in population databases (gnomAD no frequency). 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: 1058017). 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 RCV001367104 SCV002787030 uncertain significance Glycogen storage disease type III 2021-08-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001367104 SCV004050047 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001367104 SCV002094533 uncertain significance Glycogen storage disease type III 2020-08-24 no assertion criteria provided clinical testing

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