ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1432G>A (p.Val478Ile) (rs527819721)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796907 SCV000936442 uncertain significance Glycogen storage disease type III 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 478 of the AGL protein (p.Val478Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs527819721, ExAC 0.1%). This variant has not been reported in the literature in individuals with AGL-related conditions. ClinVar contains an entry for this variant (Variation ID: 558806). 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: "Possibly 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000675326 SCV000800991 uncertain significance not provided 2018-01-09 no assertion criteria provided clinical testing

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