ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu) (rs137882645)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529792 SCV000656662 uncertain significance 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2017-07-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 650 of the CLPB protein (p.Arg650Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is present in population databases (rs137882645, ExAC 0.009%). This variant has not been reported in the literature in individuals with CLPB-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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.

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