ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1778G>A (p.Trp593Ter) (rs1064794226)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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 RCV000532555 SCV000647201 pathogenic Familial adenomatous polyposis 1 2017-06-28 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a single family affected with familial adenomatous polyposis (PMID: 8990002). ClinVar contains an entry for this variant (Variation ID: 419994). Loss-of-function variants in APC are known to be pathogenic (PMID: 20685668, 17963004). For these reasons, this variant has been classified as Pathogenic.

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