Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
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, |
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. |