Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001054842 | SCV001219197 | uncertain significance | not provided | 2019-10-20 | criteria provided, single submitter | clinical testing | The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CTNNA1 cause disease. 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. This variant has not been reported in the literature in individuals with CTNNA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val416Argfs*14) in the CTNNA1 gene. It is expected to result in an absent or disrupted protein product. |
Myriad Genetics, |
RCV003455249 | SCV004186855 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2023-07-17 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Ambry Genetics | RCV004031733 | SCV005017984 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | The c.1246_1249delGTTA variant, located in coding exon 8 of the CTNNA1 gene, results from a deletion of 4 nucleotides at nucleotide positions 1246 to 1249, causing a translational frameshift with a predicted alternate stop codon (p.V416Rfs*14). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |