ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.42G>T (p.Ser14=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002639704 SCV002979426 uncertain significance DiGeorge syndrome 2022-09-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TBX1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 2 of the TBX1 gene. It does not directly change the encoded amino acid sequence of the TBX1 protein.

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