ClinVar Miner

Submissions for variant NM_020529.3(NFKBIA):c.110T>A (p.Met37Lys)

dbSNP: rs1566591073
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000721148 SCV003442299 uncertain significance Ectodermal dysplasia and immunodeficiency 2 2022-09-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 590307). 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on NFKBIA function (PMID: 28629746). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This missense change has been observed in individual(s) with autosomal dominant ectodermal dysplasia (PMID: 23708964). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 37 of the NFKBIA protein (p.Met37Lys).
OMIM RCV000721148 SCV000852031 pathogenic Ectodermal dysplasia and immunodeficiency 2 2018-11-15 no assertion criteria provided literature only

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