ClinVar Miner

Submissions for variant NM_013351.2(TBX21):c.113C>A (p.Pro38Gln)

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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 RCV003224744 SCV003920535 uncertain significance Asthma, nasal polyps, and aspirin intolerance; Immunodeficiency 88 2022-10-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.01% (6/41430) (https://gnomad.broadinstitute.org/variant/17-47733567-C-A?dataset=gnomad_r3). This variant amino acid Glutamine (Gln) is present in several species 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.

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