ClinVar Miner

Submissions for variant NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val)

dbSNP: rs727502788
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000150033 SCV000816247 uncertain significance Immunodeficiency, common variable, 10 2020-01-21 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 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with deficient anterior pituitary and variable immune deficiency (DAVID syndrome) (PMID: 25524009, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 155766). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 867 of the NFKB2 protein (p.Ala867Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine.
Blueprint Genetics RCV000788176 SCV000927207 likely pathogenic not provided 2017-03-14 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000150033 SCV001149849 pathogenic Immunodeficiency, common variable, 10 2019-08-19 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000150033 SCV002578893 likely pathogenic Immunodeficiency, common variable, 10 2022-03-07 criteria provided, single submitter clinical testing
Samuels research lab, Centre de Recherche du CHU Ste-Justine RCV000150033 SCV000172087 pathogenic Immunodeficiency, common variable, 10 no assertion criteria provided research
OMIM RCV000150033 SCV000207432 pathogenic Immunodeficiency, common variable, 10 2014-12-19 no assertion criteria provided literature only

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