Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000791821 | SCV000931085 | pathogenic | not provided | 2023-07-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 639104). This variant has not been reported in the literature in individuals affected with CTNNA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr136Asnfs*8) 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). |
Ambry Genetics | RCV001021801 | SCV001183462 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-06-06 | criteria provided, single submitter | clinical testing | The c.406dupA variant, located in coding exon 3 of the CTNNA1 gene, results from a duplication of A at nucleotide position 406, causing a translational frameshift with a predicted alternate stop codon (p.T136Nfs*8). 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, |
RCV003316808 | SCV004019774 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2023-04-03 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Baylor Genetics | RCV004569496 | SCV005058593 | likely pathogenic | Patterned macular dystrophy 2 | 2023-12-20 | criteria provided, single submitter | clinical testing |