Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522251 | SCV000617341 | pathogenic | not provided | 2017-07-25 | criteria provided, single submitter | clinical testing | This variant is denoted APC c.4033G>T at the cDNA level and p.Glu1345Ter (E1345X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon(GAA>TAA), and is predicted to cause loss of normal protein function through protein truncation. This variant has beenreported in an individual with colorectal cancer and greater than 100 adenomas and is considered pathogenic (Gómez-Fernández 2009) |
Myriad Genetics, |
RCV003335447 | SCV004045385 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-10 | 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. |