ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.637G>A (p.Ala213Thr)

gnomAD frequency: 0.00001  dbSNP: rs748232668
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001317076 SCV001507721 uncertain significance DiGeorge syndrome 2023-09-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 204 of the TBX1 protein (p.Ala204Thr). This variant is present in population databases (rs748232668, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with TBX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1017863). 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. 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.
GeneDx RCV002274185 SCV002559615 uncertain significance not provided 2022-07-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002357136 SCV002661084 uncertain significance Cardiovascular phenotype 2021-11-22 criteria provided, single submitter clinical testing The p.A204T variant (also known as c.610G>A), located in coding exon 4 of the TBX1 gene, results from a G to A substitution at nucleotide position 610. The alanine at codon 204 is replaced by threonine, an amino acid with 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.

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