Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002394905 | SCV002703016 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-20 | criteria provided, single submitter | clinical testing | The c.1636delC variant, located in coding exon 11 of the CTNNA1 gene, results from a deletion of one nucleotide at nucleotide position 1636, causing a translational frameshift with a predicted alternate stop codon (p.R546Efs*10). The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
Myriad Genetics, |
RCV003316869 | SCV004018283 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2023-03-17 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Labcorp Genetics |
RCV003561016 | SCV004300198 | pathogenic | not provided | 2023-05-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg546Glufs*10) 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). ClinVar contains an entry for this variant (Variation ID: 1776938). 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). |