Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001351290 | SCV001545742 | uncertain significance | not provided | 2022-08-16 | 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. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1046697). This variant has not been reported in the literature in individuals affected with CTNNA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 379 of the CTNNA1 protein (p.Arg379Gly). |
| Ambry Genetics | RCV004036648 | SCV003622771 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-09-07 | criteria provided, single submitter | clinical testing | The p.R379G variant (also known as c.1135C>G), located in coding exon 7 of the CTNNA1 gene, results from a C to G substitution at nucleotide position 1135. The arginine at codon 379 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV003473874 | SCV004211259 | uncertain significance | Patterned macular dystrophy 2 | 2023-10-20 | criteria provided, single submitter | clinical testing |