Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001042239 | SCV001205912 | pathogenic | not provided | 2023-09-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg121*) 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 not present in population databases (gnomAD no frequency). 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: 840285). For these reasons, this variant has been classified as Pathogenic. |
Institute for Clinical Genetics, |
RCV001042239 | SCV002010507 | likely pathogenic | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003455173 | SCV004186844 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2023-07-05 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |