ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3391C>T (p.Gln1131Ter) (rs878853438)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231460 SCV000282739 pathogenic Familial adenomatous polyposis 1 2016-01-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1131 (p.Gln1131*). It is expected to result in an absent or disrupted protein product. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in individuals affected with familial adenomatous polyposis (PMID: 20924072, 11960572). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000430422 SCV000517423 pathogenic not provided 2015-06-05 criteria provided, single submitter clinical testing This pathogenic variant is denoted APC c.3391C>T at the cDNA level and p.Gln1131Ter (Q1131X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through protein truncation. This variant has been reported in association with Familial Adenomatous Polyposis (Wu 2001, Rivera 2011) and is considered pathogenic.The presence of
Ambry Genetics RCV000491908 SCV000579935 pathogenic Hereditary cancer-predisposing syndrome 2016-11-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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