ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp)

gnomAD frequency: 0.00005  dbSNP: rs200299650
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795768 SCV000935241 uncertain significance 3-methylglutaconic aciduria, type VIIB 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 554 of the CLPB protein (p.Arg554Trp). This variant is present in population databases (rs200299650, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CLPB-related conditions. ClinVar contains an entry for this variant (Variation ID: 642319). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
CeGaT Center for Human Genetics Tuebingen RCV003334010 SCV004042517 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing CLPB: PM2
Institute of Human Genetics, University Hospital of Duesseldorf RCV003453645 SCV004177270 uncertain significance Neutropenia, severe congenital, 2, autosomal dominant criteria provided, single submitter not provided

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