ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) (rs1801166)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 22
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035073 SCV000058713 likely benign not specified 2017-05-08 criteria provided, single submitter clinical testing Disclaimer: This variant has not undergone full assessment. The following are pr eliminary notes: This variant is classified in HGMD as DP and is present in 12 p apers, with comments suggesting non-pathogenicity. It is present at 0.62% in gno mAD (785/126536 European chrs, including 7 homozygotes). It is classified in Cli nVar with 1 star as Benign/Likely benign by Invitae, GeneDx, Emory, Prevention G enetics, Biesecker lab, and Pathway Genomics. 2 mammals have a Gln at this posit ion.
Invitae RCV000000872 SCV000153870 benign Familial adenomatous polyposis 1 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000035073 SCV000167008 benign not specified 2013-10-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035073 SCV000226386 benign not specified 2014-12-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035073 SCV000301593 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322880 SCV000452009 benign APC-Associated Polyposis Disorders 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000035073 SCV000591162 benign not specified 2016-02-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000035073 SCV000602523 benign not specified 2018-07-06 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000034389 SCV000609169 likely benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Color RCV000579405 SCV000681643 benign Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing
Counsyl RCV000000872 SCV000785169 likely benign Familial adenomatous polyposis 1 2017-05-18 criteria provided, single submitter clinical testing
Mendelics RCV000000872 SCV000838111 uncertain significance Familial adenomatous polyposis 1 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034389 SCV000888740 benign not provided 2018-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000579405 SCV001183123 likely benign Hereditary cancer-predisposing syndrome 2019-12-26 criteria provided, single submitter clinical testing
OMIM RCV000000872 SCV000021022 pathogenic Familial adenomatous polyposis 1 2000-09-22 no assertion criteria provided literature only
GeneReviews RCV000000872 SCV000040394 pathologic Familial adenomatous polyposis 1 2011-10-27 no assertion criteria provided curation Converted during submission to Pathogenic.
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034389 SCV000043126 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000035073 SCV000084172 not provided not specified 2013-09-19 no assertion provided reference population
Pathway Genomics RCV000000872 SCV000189869 likely benign Familial adenomatous polyposis 1 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000035073 SCV000256984 uncertain significance not specified no assertion criteria provided clinical testing
True Health Diagnostics RCV000579405 SCV000693481 likely benign Hereditary cancer-predisposing syndrome 2017-08-11 no assertion criteria provided clinical testing
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000000872 SCV001190845 benign Familial adenomatous polyposis 1 2020-02-05 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.