Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000478645 | SCV000568269 | pathogenic | not provided | 2017-10-04 | criteria provided, single submitter | clinical testing | This variant is denoted APC c.1778G>A at the cDNA level and p.Trp593Ter (W593X) at the protein level. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in individuals with Familial Adenomatous Polyposis (FAP) and is considered pathogenic (van der Luijt 1997, Hes 2008, Kerr 2013). |
Invitae | RCV003743740 | SCV000647201 | pathogenic | Familial adenomatous polyposis 1 | 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: 419994). This premature translational stop signal has been observed in individual(s) with familial adenomatous polyposis (PMID: 8990002). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp593*) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). |
Myriad Genetics, |
RCV002526560 | SCV004044626 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-03 | 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. |