ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1474G>T (p.Gly492Ter)

dbSNP: rs541198585
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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 RCV001048973 SCV001213003 uncertain significance DiGeorge syndrome 2019-03-29 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TBX1 gene (p.Gly483*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 13 amino acids of the TBX1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in one or more individuals who were not affected with TBX1-related disease (Invitae). 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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