ClinVar Miner

Submissions for variant NM_001556.3(IKBKB):c.1392C>A (p.Cys464Ter)

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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 RCV003048046 SCV003352967 pathogenic Severe combined immunodeficiency due to IKK2 deficiency 2022-04-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys464*) in the IKBKB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IKBKB are known to be pathogenic (PMID: 24369075, 24679846). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IKBKB-related conditions. For these reasons, this variant has been classified as Pathogenic.

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