ClinVar Miner

Submissions for variant NM_080647.1(TBX1):c.324C>T (p.Ala108=) (rs757290764)

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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 RCV000768330 SCV000899010 uncertain significance Conotruncal heart malformations; Shprintzen syndrome; DiGeorge sequence; Tetralogy of Fallot 2017-12-18 criteria provided, single submitter clinical testing TBX1 NM_080647.1 exon 3 p.Ala108Ala (c.324C>T): This variant has not been reported in the literature but is present in 1/8566 African alleles in the Genome Aggregation Database ( Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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