ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1422CGC[6] (p.Ala485_Asn486insAlaAla)

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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 RCV003619563 SCV004518093 uncertain significance DiGeorge syndrome 2023-08-11 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 not present in population databases (gnomAD no frequency). This variant, c.1401_1406dup, results in the insertion of 2 amino acid(s) of the TBX1 protein (p.Ala475_Ala476dup), but otherwise preserves the integrity of the reading frame.

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