ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1385ACC[7] (p.His466_Pro467insHisHis)

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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 RCV002578841 SCV002947233 uncertain significance DiGeorge syndrome 2022-08-08 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with TBX1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant, c.1367_1372dup, results in the insertion of 2 amino acid(s) of the TBX1 protein (p.His456_His457dup), but otherwise preserves the integrity of the reading frame.

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