ClinVar Miner

Submissions for variant NC_000011.10:g.(?_72372905)_(72380404_?)del

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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 RCV001031570 SCV001194876 pathogenic 3-methylglutaconic aciduria, type VIIB 2019-09-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CLPB are known to be pathogenic (PMID: 25597510, 28687938). This variant has not been reported in the literature in individuals with CLPB-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exons 4-5 of the CLPB gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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