ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1037-7_1037-6del

dbSNP: rs1037168604
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993258 SCV001146087 uncertain significance not provided 2019-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001210492 SCV001381981 uncertain significance DiGeorge syndrome 2023-10-13 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the TBX1 gene. It does not directly change the encoded amino acid sequence of the TBX1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TBX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 805625). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt 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.

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