ClinVar Miner

Submissions for variant NM_001079872.2(CUL4B):c.355G>T (p.Glu119Ter)

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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 RCV003512835 SCV004364930 pathogenic X-linked intellectual disability Cabezas type 2023-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu137*) in the CUL4B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CUL4B are known to be pathogenic (PMID: 17236139, 25385192). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CUL4B-related conditions. For these reasons, this variant has been classified as Pathogenic.

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