ClinVar Miner

Submissions for variant NM_001556.3(IKBKB):c.25del (p.Thr9fs)

dbSNP: rs2129978037
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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 RCV002002543 SCV002231275 pathogenic Severe combined immunodeficiency due to IKK2 deficiency 2021-05-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with IKBKB-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr9Argfs*9) 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).

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