Submissions for variant NM_001322934.2(NFKB2):c.1736G>A (p.Arg579His)

gnomAD frequency: 0.00065  dbSNP: rs200227171

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000651937	SCV000773794	likely benign	Immunodeficiency, common variable, 10	2024-01-19	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000651937	SCV000898849	uncertain significance	Immunodeficiency, common variable, 10	2021-03-30	criteria provided, single submitter	clinical testing	NFKB2 NM_001077494.3 exon 16 p.Arg579His (c.1736G>A): This variant has not been reported in the literature but is present in 0.1% (41/30766) of South Asian alleles, including 1 homozygote, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs200227171). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Center for Human Genetics Tuebingen	RCV002510946	SCV002821538	benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	NFKB2: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003980273	SCV004790312	likely benign	NFKB2-related condition	2022-05-03	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).