ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser)

gnomAD frequency: 0.00271  dbSNP: rs56148525
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210638 SCV000262927 uncertain significance Inborn genetic diseases 2014-06-06 criteria provided, single submitter clinical testing
Invitae RCV001086911 SCV000773028 likely benign Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000658743 SCV000780532 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing IL21R: BP4
Eurofins Ntd Llc (ga) RCV000658743 SCV000858455 uncertain significance not provided 2017-11-30 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001280967 SCV001468345 uncertain significance IgE responsiveness, atopic; Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2021-03-30 criteria provided, single submitter clinical testing IL21R NM_021798.3 exon 9 p.Gly345Ser (c.1033G>A): This variant has been reported in the literature in at least 1 individual referred for an unspecified immune disorder (Hagman 2017 PMID:27513193). This variant is present in 0.3% (480/128220) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-27460020-G-A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:225037). This variant amino acid Serine (Ser) is present in 4 species (Crab-eating macaque, Squirrel monkey, Bat, Microbat); this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Baylor Genetics RCV001086911 SCV001528159 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2018-06-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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