Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002383174 | SCV002689388 | uncertain significance | Cardiovascular phenotype | 2022-05-02 | criteria provided, single submitter | clinical testing | The p.A429S variant (also known as c.1285G>T), located in coding exon 8 of the TBX1 gene, results from a G to T substitution at nucleotide position 1285. The alanine at codon 429 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003774234 | SCV004673483 | uncertain significance | DiGeorge syndrome | 2023-02-18 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1768957). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. This variant has not been reported in the literature in individuals affected with TBX1-related conditions. 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. This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 429 of the TBX1 protein (p.Ala429Ser). |