ClinVar Miner

Submissions for variant NM_013351.2(TBX21):c.1066T>C (p.Ser356Pro)

gnomAD frequency: 0.00002  dbSNP: rs751786712
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Total submissions: 2
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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 RCV001281028 SCV001468444 uncertain significance Asthma, nasal polyps, and aspirin intolerance 2019-12-12 criteria provided, single submitter clinical testing TBX21 NM_013351.1 exon 6 p.Ser356Pro (c.1066T>C): This variant has not been reported in the literature but is present in 0.07% (27/34592) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/17-45822190-T-C?dataset=gnomad_r2_1). Evolutionary conservation for this variant is unclear; 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224548 SCV003920532 uncertain significance Asthma, nasal polyps, and aspirin intolerance; Immunodeficiency 88 2021-03-30 criteria provided, single submitter clinical testing TBX21 NM_013351.1 exon 6 p.Ser356Pro (c.1066T>C): This variant has not been reported in the literature but is present in 0.07% (27/34592) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/17-45822190-T-C?dataset=gnomad_r2_1). Evolutionary conservation for this variant is unclear; 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.

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