ClinVar Miner

Submissions for variant NM_003998.4(NFKB1):c.317dup (p.Asn106fs)

dbSNP: rs1560679469
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761318 SCV000891303 likely pathogenic Immunodeficiency, common variable, 12 2017-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003546596 SCV004262855 pathogenic not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn106Lysfs*15) in the NFKB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NFKB1 are known to be pathogenic (PMID: 26279205, 29477724). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NFKB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 623198). For these reasons, this variant has been classified as Pathogenic.

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