ClinVar Miner

Submissions for variant NM_000038.6(APC):c.694C>T (p.Arg232Ter) (rs397515734)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000844606 SCV000058721 pathogenic Familial multiple polyposis syndrome 2012-01-31 criteria provided, single submitter clinical testing The Arg232X nonsense variant has previously been reported as pathogenic in the l iterature. This variant has been identified as a germline change in at least 15 individuals with clinical features of Familial Adenomatous Polyposis syndrome (M iyoshi 1992, Olschwang 1997, Kraus 1998, Gavert 2002, Michils 2002, Bisgaard 200 4, Friedl 2005, Aceto 2005, De la Fuente 2007, Fostira 2010, Han 2011, Rivera 20 11) and in one individual with clinical diagnosis of Attenuated Familial Adenoma tous Polyposis (AFAP) (Rivera 2011). The presence of a heterozygous pathogenic v ariant in APC is consistent with a diagnosis of Familial Adenomatous Polyposis ( FAP) syndrome.
Invitae RCV000035081 SCV000552617 pathogenic Familial adenomatous polyposis 1 2018-06-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 232 (p.Arg232*) of 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. This particular variant has been reported in the literature as a recurrent causative variant in several individuals affected with or suspected to have familial adenomatous polyposis (PMID: 1316610, 20685668, 24735542, 20223039). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000486263 SCV000568266 pathogenic not provided 2018-07-31 criteria provided, single submitter clinical testing This variant is denoted APC c.694C>T at the cDNA level and p.Arg232Ter (R232X) 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 association with classic and attenuated cases of Familial Adenomatous Polyposis (Michils 2002, Aceto 2005, Friedl 2005, Fostira 2010, Rivera 2011, Simbolo 2015) and is considered pathogenic.
Ambry Genetics RCV000491782 SCV000579780 pathogenic Hereditary cancer-predisposing syndrome 2018-02-23 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),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501093 SCV000591048 pathogenic Familial adenomatous polyposis criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000501093 SCV000781066 pathogenic Familial adenomatous polyposis 2016-11-01 criteria provided, single submitter clinical testing
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine RCV000035081 SCV000839877 pathogenic Familial adenomatous polyposis 1 2017-12-04 criteria provided, single submitter clinical testing This c.694C>T (p.Arg232*) variant in the APC gene is predicted to introduce a premature translation termination codon. This variant has been reported in multiple unrelated individuals with familial adenomatous polyposis (PMID: 1316610, 8187091, 8730280, 8990002, 9664575, 9950360, 12007223, 12173026, 15108286, 16134147, 17963004, 20223039, 20649969, 20924072, 21110124, 23159591). The c.694C>T (p.Arg232*) variant in the APC gene is classified as pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000486263 SCV000887548 pathogenic not provided 2018-06-13 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763537 SCV000894350 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 RCV000486263 SCV000691706 pathogenic not provided no assertion criteria provided clinical testing

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