ClinVar Miner

Submissions for variant NM_001322934.2(NFKB2):c.2578+1del

dbSNP: rs2135443063
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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 RCV001881443 SCV002151517 uncertain significance Immunodeficiency, common variable, 10 2021-04-10 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with NFKB2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects a splice site in intron 22 of the NFKB2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NFKB2 cause disease.

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