ClinVar Miner

Submissions for variant NM_000038.6(APC):c.847C>T (p.Arg283Ter) (rs786201856)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164351 SCV000214984 pathogenic Hereditary cancer-predisposing syndrome 2017-03-09 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)
Invitae RCV000226000 SCV000282846 pathogenic Familial adenomatous polyposis 1 2018-08-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 283 (p.Arg283*) of 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 several individuals affected with familial adenomatous polyposis and to segregate with the disease in one family (PMID: 8187091, 9950360, 12901799, 20223039, 20685668). ClinVar contains an entry for this variant (Variation ID: 184999). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000202113 SCV000567470 pathogenic not provided 2015-07-28 criteria provided, single submitter clinical testing This pathogenic variant is denoted APC c.847C>T at the cDNA level and p.Arg283Ter (R283X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (CGA>TGA), 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 several individuals with a clinical diagnosis of Familial Adenomatous Polyposis and is considered pathogenic (Nagase 1992, Friedl 2005, Torrezan 2013).
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501350 SCV000591057 pathogenic Familial adenomatous polyposis 2013-05-27 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763538 SCV000894351 pathogenic Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma 2018-10-31 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202113 SCV000257036 pathogenic not provided no assertion criteria provided clinical testing
Genome Sciences Centre,British Columbia Cancer Agency RCV000587519 SCV000693730 pathogenic Malignant Colorectal Neoplasm 2016-07-11 no assertion criteria provided research

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