Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001053991 | SCV001218282 | pathogenic | not provided | 2023-06-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg129*) 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 (rs758599826, gnomAD 0.002%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 849931). This premature translational stop signal has been observed in individual(s) with diffuse gastric cancer and/or glioma (PMID: 26182300, 26689913). |
Myriad Genetics, |
RCV003455238 | SCV004186822 | 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. |
Ambry Genetics | RCV004031696 | SCV005018326 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-10-27 | criteria provided, single submitter | clinical testing | The p.R129* variant (also known as c.385C>T), located in coding exon 3 of the CTNNA1 gene, results from a C to T substitution at nucleotide position 385. This changes the amino acid from an arginine to a stop codon within coding exon 3. 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. |