ClinVar Miner

Submissions for variant NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter)

dbSNP: rs1578793312
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027604 SCV001190175 pathogenic Inherited Immunodeficiency Diseases 2019-01-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027598 SCV001190176 likely pathogenic Common variable immunodeficiency 2019-01-01 criteria provided, single submitter research
Institute of Human Genetics, University of Leipzig Medical Center RCV001262753 SCV001440735 pathogenic Immunodeficiency, common variable, 12 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002552007 SCV003459865 pathogenic not provided 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg284*) 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 premature translational stop signal has been observed in individual(s) with autosomal dominant NKFB1 deficiency (PMID: 29477724, 32499645, 32581362, 32918165). ClinVar contains an entry for this variant (Variation ID: 827726). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001262753 SCV001571630 pathogenic Immunodeficiency, common variable, 12 2021-04-20 no assertion criteria provided literature only

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