ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1414_1415del (p.Ala472fs)

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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 RCV003507078 SCV004319006 uncertain significance DiGeorge syndrome 2023-08-22 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the TBX1 gene (p.Ala463Argfs*153). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 33 amino acid(s) of the TBX1 protein and extend the protein by 119 additional amino acid residues. 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. This variant disrupts a region of the TBX1 protein in which other variant(s) (p.Tyr490Cys) have been observed in individuals with TBX1-related conditions (PMID: 32045288). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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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