ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) (rs200203460)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000167543 SCV000328966 pathogenic 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2016-09-14 no assertion criteria provided literature only
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000167543 SCV000265561 pathogenic 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2015-09-04 criteria provided, single submitter research
Invitae RCV000167543 SCV000821298 pathogenic 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2018-06-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg417*) in the CLPB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs200203460, ExAC 0.006%). This variant has been observed to segregate with 3-methylglutaconic aciduria in several families (PMID: 25597510), as well as in several unrelated individuals affected or suspected to be affected with 3-methylglutaconic aciduria (PMID: 25597511, 27290639, 28687938). ClinVar contains an entry for this variant (Variation ID: 187786). Loss-of-function variants in CLPB are known to be pathogenic (PMID: 25597510). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000167543 SCV000218401 pathogenic 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2015-02-05 no assertion criteria provided literature only

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