ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) (rs150343959)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000316112 SCV000344751 uncertain significance not provided 2016-08-16 criteria provided, single submitter clinical testing
GeneReviews RCV000258954 SCV000328974 pathogenic 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2016-09-14 no assertion criteria provided literature only
Invitae RCV000258954 SCV000775149 uncertain significance 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2018-08-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 628 of the CLPB protein (p.Arg628Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs150343959, ExAC 0.2%). This variant has been reported in compound heterozygosity with a second rare missense change in two siblings affected with 3-methylglutaconic aciduria, renal cysts, nephrocalcinosis, and cataracts (PMID: 25595726). ClinVar contains an entry for this variant (Variation ID: 279610). An experimental study has shown that patient fibroblasts carrying both the p.Arg628Cys and p.Glu639Lys missense changes exhibit reduced CLPB expression (PMID: 25595726), however, the individual contribution of each missense variant to this finding was not examined. 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.
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes RCV000316112 SCV000920523 uncertain significance not provided 2018-09-25 criteria provided, single submitter clinical testing

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