ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.538C>A (p.Arg180=)

dbSNP: rs746384751
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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 RCV001352432 SCV001546984 uncertain significance DiGeorge syndrome 2020-04-08 criteria provided, single submitter clinical testing This sequence change affects codon 171 of the TBX1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TBX1 protein. 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 is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with TBX1-related conditions. This variant is present in population databases (rs746384751, ExAC 0.003%).

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