ClinVar Miner

Submissions for variant NM_020529.3(NFKBIA):c.61AAG[1] (p.Lys22del)

dbSNP: rs760942646
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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 RCV001927432 SCV002158691 uncertain significance Ectodermal dysplasia and immunodeficiency 2 2023-01-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NFKBIA-related conditions. This variant is present in population databases (rs760942646, gnomAD 0.007%). This variant, c.64_66del, results in the deletion of 1 amino acid(s) of the NFKBIA protein (p.Lys22del), but otherwise preserves the integrity of the reading frame. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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