ClinVar Miner

Submissions for variant NM_013351.2(TBX21):c.326C>G (p.Ala109Gly)

gnomAD frequency: 0.00089  dbSNP: rs377743321
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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 RCV001027848 SCV001190472 uncertain significance Asthma, nasal polyps, and aspirin intolerance 2019-08-15 criteria provided, single submitter clinical testing TBX21 NM_013351.1 exon1 p.Ala109Gly (c.326C>G): This variant has not been reported in the literature but is present in 0.1% (32/22742) of South Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/17-45811146-C-G). This variant amino acid Glycine (Gly) is present in two species (Black flying fox, Megabat) 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224516 SCV003920531 uncertain significance Asthma, nasal polyps, and aspirin intolerance; Immunodeficiency 88 2021-03-30 criteria provided, single submitter clinical testing TBX21 NM_013351.1 exon1 p.Ala109Gly (c.326C>G): This variant has not been reported in the literature but is present in 0.1% (32/22742) of South Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/17-45811146-C-G). This variant amino acid Glycine (Gly) is present in two species (Black flying fox, Megabat) 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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