Submissions for variant NM_181078.3(IL21R):c.-17+563G>A

gnomAD frequency: 0.00901  dbSNP: rs117535117

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000768236	SCV000898753	uncertain significance	IgE responsiveness, atopic; Cryptosporidiosis-chronic cholangitis-liver disease syndrome	2021-03-30	criteria provided, single submitter	clinical testing	IL21R NM_181079.4 exon 2 p.Arg4His (c.11G>A): This variant has been reported in the literature in 2 individuals with a clinical diagnosis of Common Variable Immunodeficiency Disorder (CVID) (van Schouwenburg 2015 PMID:26122175). However, this variant is present in 1% (701/65380) of European alleles, including 2 homozygotes, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/16-27414502-G-A). 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811477	SCV001473676	likely benign	not provided	2023-10-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001811477	SCV004143356	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	IL21R: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001811477	SCV005194289	uncertain significance	not provided		criteria provided, single submitter	not provided