ClinVar Miner

Submissions for variant NM_005992.1(TBX1):c.131_133CGC[3] (p.Pro47_Pro48del) (rs886038791)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630485 SCV000751445 uncertain significance DiGeorge Syndrome 2018-03-01 criteria provided, single submitter clinical testing This variant, c.140_145delCGCCGC, results in the deletion of 2 amino acid(s) of the TBX1 protein (p.Pro47_Pro48del), but otherwise preserves the integrity of the reading frame. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with TBX1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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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