ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.438G>A (p.Arg146=)

dbSNP: rs2145832204
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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 RCV001874272 SCV002121350 uncertain significance DiGeorge syndrome 2022-10-11 criteria provided, single submitter clinical testing This sequence change affects codon 137 of the TBX1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TBX1 protein. It affects a nucleotide within the consensus splice site. 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. ClinVar contains an entry for this variant (Variation ID: 1361229). This variant has not been reported in the literature in individuals affected with TBX1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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