Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000519138 | SCV000617342 | pathogenic | not provided | 2017-08-14 | criteria provided, single submitter | clinical testing | This variant is denoted APC c.4585C>T at the cDNA level and p.Gln1529Ter (Q1529X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon(CAG>TAG), and is predicted to cause loss of normal protein function through protein truncation. This variant results inthe loss of the last 1,315 residues of APC, causing loss or disruption of several functional domains (Azzopardi 2008).This variant has been reported in individuals with Familial Adenomatous Polyposis (van der Lujit 1994, Han 2011) andis considered pathogenic |
Myriad Genetics, |
RCV003335448 | SCV004045314 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-11 | 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. |