Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000816829 | SCV000957355 | pathogenic | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg451*) 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 premature translational stop signal has been observed in individual(s) with diffuse gastric cancer (PMID: 32051609). ClinVar contains an entry for this variant (Variation ID: 659776). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV002381837 | SCV002690193 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-19 | criteria provided, single submitter | clinical testing | The p.R451* variant (also known as c.1351C>T), located in coding exon 9 of the CTNNA1 gene, results from a C to T substitution at nucleotide position 1351. This changes the amino acid from an arginine to a stop codon within coding exon 9. In one study, this alteration was identified in three separate families with early-onset diffuse gastric cancer or breast cancer (Clark DF et al. Genet Med, 2020 05;22:840-846). 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. |
Myriad Genetics, |
RCV003453719 | SCV004186722 | 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. |
Baylor Genetics | RCV004569722 | SCV005058592 | pathogenic | Patterned macular dystrophy 2 | 2023-12-21 | criteria provided, single submitter | clinical testing |