ClinVar Miner

Submissions for variant NM_001322934.2(NFKB2):c.2611C>T (p.Gln871Ter)

dbSNP: rs2061279365
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090925 SCV001246701 pathogenic not provided 2020-10-01 criteria provided, single submitter clinical testing
Invitae RCV001231680 SCV001404211 pathogenic Immunodeficiency, common variable, 10 2020-05-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with deficient anterior pituitary with variable immune deficiency (DAVID) syndrome (PMID: 31417880, 30941118). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the NFKB2 gene (p.Gln871*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acids of the NFKB2 protein.
OMIM RCV001231680 SCV001439292 pathogenic Immunodeficiency, common variable, 10 2020-10-27 no assertion criteria provided literature only

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