ClinVar Miner

Submissions for variant NM_000246.3(CIITA):c.2651G>A (p.Arg884His) (rs374443915)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000352360 SCV000394766 uncertain significance Bare lymphocyte syndrome 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000352360 SCV000898613 uncertain significance Bare lymphocyte syndrome 2 2017-11-21 criteria provided, single submitter clinical testing CIITA NM_000246.3 exon 11 p.Arg884His (c.2651G>A): This variant has not been reported in the literature but is present in 0.1% (21/16688) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs374443915). This variant is present in ClinVar (Variation ID:317716). This variant amino acid Histidine (His) is present in >20 species including mammals and is not well conserved among evolutionarily distant species; 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.
Natera, Inc. RCV000352360 SCV001464786 likely benign Bare lymphocyte syndrome 2 2020-04-24 no assertion criteria provided clinical testing

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