ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1380T>A (p.His460Gln)

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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 RCV002628777 SCV003515634 uncertain significance DiGeorge syndrome 2023-07-25 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 2195575). 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 0.001%). This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 451 of the TBX1 protein (p.His451Gln).

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