ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) (rs139387758)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000120040 SCV000167009 benign not specified 2014-02-05 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.
Ambry Genetics RCV000129100 SCV000183811 benign Hereditary cancer-predisposing syndrome 2015-01-04 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000987573 SCV000252587 benign Familial adenomatous polyposis 1 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321870 SCV000452012 likely benign APC-Associated Polyposis Disorders 2018-11-29 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000120040 SCV000602521 likely benign not specified 2016-10-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120040 SCV000805409 benign not specified 2017-04-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759431 SCV000888745 benign not provided 2018-06-05 criteria provided, single submitter clinical testing
Color RCV000129100 SCV000902635 benign Hereditary cancer-predisposing syndrome 2016-03-23 criteria provided, single submitter clinical testing
Mendelics RCV000987573 SCV001136913 benign Familial adenomatous polyposis 1 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000120040 SCV000084173 not provided not specified 2013-09-19 no assertion provided reference population
CSER _CC_NCGL, University of Washington RCV000148366 SCV000190058 uncertain significance Colorectal adenoma 2014-06-01 no assertion criteria provided research

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