Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001935895 | SCV002189486 | pathogenic | not provided | 2023-08-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu29Trpfs*12) in the CTNNA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTNNA1 are known to be pathogenic (PMID: 32051609, 34425242). This variant is present in population databases (rs745411817, gnomAD 0.007%). 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: 1416783). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV002370520 | SCV002685232 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-03-18 | criteria provided, single submitter | clinical testing | The c.86delT variant, located in coding exon 1 of the CTNNA1 gene, results from a deletion of one nucleotide at nucleotide position 86, causing a translational frameshift with a predicted alternate stop codon (p.L29Wfs*12). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, the gene-disease association for CTNNA1 is limited. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Myriad Genetics, |
RCV003316855 | SCV004017955 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2023-04-12 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |