ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693434 SCV000821303 uncertain significance 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2018-01-29 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 524 of the CLPB protein (p.Asn524Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs779812366, 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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