ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1341_1344del (p.Asp448fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003751714 SCV004405655 pathogenic 3-methylglutaconic aciduria, type VIIB 2023-07-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp478Glufs*15) in the CLPB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLPB are known to be pathogenic (PMID: 25597510, 28687938). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CLPB-related conditions. For these reasons, this variant has been classified as Pathogenic.

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