ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.823G>C (p.Glu275Gln)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002416921 SCV002678032 uncertain significance Cardiovascular phenotype 2022-01-02 criteria provided, single submitter clinical testing The p.E266Q variant (also known as c.796G>C), located in coding exon 5 of the TBX1 gene, results from a G to C substitution at nucleotide position 796. The glutamic acid at codon 266 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003099804 SCV002940496 uncertain significance DiGeorge syndrome 2023-07-10 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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) performed at Invitae indicates that this missense variant is not expected to disrupt TBX1 protein function. ClinVar contains an entry for this variant (Variation ID: 1761427). This missense change has been observed in individual(s) with congenital hypothyroidism (PMID: 34374102). This variant is present in population databases (rs144848597, gnomAD 0.03%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 266 of the TBX1 protein (p.Glu266Gln).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.