ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.158CGC[7] (p.Pro57_Arg58insProPro)

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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 RCV005140325 SCV005760641 uncertain significance DiGeorge syndrome 2025-01-01 criteria provided, single submitter clinical testing This variant, c.140_145dup, results in the insertion of 2 amino acid(s) of the TBX1 protein (p.Pro47_Pro48dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with TBX1-related conditions. 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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