ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.127G>T (p.Gly43Cys)

dbSNP: rs1936637392
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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 RCV001066867 SCV001231890 uncertain significance DiGeorge syndrome 2019-01-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 34 of the TBX1 protein (p.Gly34Cys). The glycine residue is moderately conserved and there is a large physicochemical difference between glycine and cysteine. 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 with TBX1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database.

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