Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003301439 | SCV003996403 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-11 | criteria provided, single submitter | clinical testing | The c.2017_2018dupAT variant, located in coding exon 14 of the CTNNA1 gene, results from a duplication of AT at nucleotide position 2017, causing a translational frameshift with a predicted alternate stop codon (p.M673Ifs*50). 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, |
RCV003455788 | SCV004185942 | likely pathogenic | Hereditary diffuse gastric adenocarcinoma | 2023-11-27 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |