ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1729A>G (p.Ile577Val)

gnomAD frequency: 0.00002  dbSNP: rs762529905
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792366 SCV000931660 uncertain significance Glycogen storage disease type III 2022-05-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 577 of the AGL protein (p.Ile577Val). This variant is present in population databases (rs762529905, 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: 639547). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV000792366 SCV002776029 uncertain significance Glycogen storage disease type III 2021-12-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000792366 SCV004049971 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000792366 SCV002091508 uncertain significance Glycogen storage disease type III 2020-10-07 no assertion criteria provided clinical testing

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