ClinVar Miner

Submissions for variant NM_020529.3(NFKBIA):c.110T>G (p.Met37Arg)

dbSNP: rs1566591073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000721147 SCV001565073 uncertain significance Ectodermal dysplasia and immunodeficiency 2 2020-04-12 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of anhidrotic ectodermal dysplasia (PMID: 23870671). ClinVar contains an entry for this variant (Variation ID: 590306). This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with arginine at codon 37 of the NFKBIA protein (p.Met37Arg). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and arginine.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000721147 SCV002512612 uncertain significance Ectodermal dysplasia and immunodeficiency 2 2022-02-07 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, PP3 supporting
OMIM RCV000721147 SCV000852030 pathogenic Ectodermal dysplasia and immunodeficiency 2 2023-09-28 no assertion criteria provided literature only

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