ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2375A>T (p.Tyr792Phe)

gnomAD frequency: 0.00001  dbSNP: rs1234424650
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Total submissions: 1
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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 RCV005408798 SCV001468486 uncertain significance Rheumatoid arthritis; MHC class II deficiency 1 criteria provided, single submitter clinical testing CIITA NM_000246.3 exon 11 p.Tyr792Phe (c.2375A>T): This variant has not been reported in the literature but is present in 0.01% (1/8704) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-11001724-A-T?dataset=gnomad_r2_1). Evolutionary conservation suggests that this variant may impact the protein; computational predictive tools for this variant are unclear. Of note, although this variant occurs within the exon, computational prediction tools suggest that this variant may affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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