ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly)

dbSNP: rs1452987245
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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 RCV001281027 SCV001468443 uncertain significance Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot 2021-03-30 criteria provided, single submitter clinical testing TBX1 NM_080647.1 exon 9 p.Ala349Gly (c.1046C>G): This variant has not been reported in the literature and is not present in large control databases. This variant amino acid Glycine (Gly) is present in 4 species (guinea pig, naked mole rat, brush tailed rat, peregrine falcon) 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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