ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.428A>G (p.Lys143Arg)

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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 RCV003060625 SCV003448591 uncertain significance DiGeorge syndrome 2022-11-10 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TBX1 protein function. This variant has not been reported in the literature in individuals affected with TBX1-related conditions. This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 134 of the TBX1 protein (p.Lys134Arg).

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