Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003649055 | SCV004550259 | uncertain significance | Aortic valve disease 2 | 2023-05-17 | 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. 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 TBX5 protein function. This variant has not been reported in the literature in individuals affected with TBX5-related conditions. This variant is present in population databases (rs369919453, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 53 of the TBX5 protein (p.Gly53Glu). |
| Ambry Genetics | RCV004374308 | SCV004961842 | uncertain significance | Cardiovascular phenotype | 2023-12-12 | criteria provided, single submitter | clinical testing | The c.158G>A (p.G53E) alteration is located in exon 3 (coding exon 2) of the TBX5 gene. This alteration results from a G to A substitution at nucleotide position 158, causing the glycine (G) at amino acid position 53 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |