Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001301760 | SCV001490939 | uncertain significance | DiGeorge syndrome | 2020-08-20 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces aspartic acid with asparagine at codon 424 of the TBX1 protein (p.Asp424Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs758517884, ExAC 0.01%). This variant has not been reported in the literature in individuals with TBX1-related conditions. 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. |
| Ambry Genetics | RCV002375365 | SCV002684049 | uncertain significance | Cardiovascular phenotype | 2021-11-22 | criteria provided, single submitter | clinical testing | The p.D424N variant (also known as c.1270G>A), located in coding exon 8 of the TBX1 gene, results from a G to A substitution at nucleotide position 1270. The aspartic acid at codon 424 is replaced by asparagine, an amino acid with highly 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. |