Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000814661 | SCV000955078 | uncertain significance | not provided | 2024-01-22 | 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 68 of the CTNNA1 protein (p.Ala68Thr). This variant is present in population databases (rs766078636, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CTNNA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 657946). 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 CTNNA1 protein function with a negative predictive value of 80%. 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 | RCV002422814 | SCV002720204 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-14 | criteria provided, single submitter | clinical testing | The p.A68T variant (also known as c.202G>A), located in coding exon 2 of the CTNNA1 gene, results from a G to A substitution at nucleotide position 202. The alanine at codon 68 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
| Baylor Genetics | RCV003472423 | SCV004211282 | uncertain significance | Patterned macular dystrophy 2 | 2023-08-29 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000814661 | SCV005326584 | uncertain significance | not provided | 2023-07-09 | 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; This variant is associated with the following publications: (PMID: 32051609) |