ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4765C>G (p.Arg1589Gly) (rs72541813)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131191 SCV000186141 likely benign Hereditary cancer-predisposing syndrome 2019-03-20 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;No disease association in small case-control study;Other data supporting benign classification
GeneDx RCV000211915 SCV000209469 uncertain significance not provided 2020-09-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with multiple adenomatous colon polyps, thyroid cancer, and sarcoma (Urso 2013, Ballinger 2016, Yehia 2018); This variant is associated with the following publications: (PMID: 18199528, 27498913, 22773231, 27156442, 29684080, 30122538)
Invitae RCV000232313 SCV000282762 likely benign Familial adenomatous polyposis 1 2020-12-07 criteria provided, single submitter clinical testing
Counsyl RCV000232313 SCV000489580 uncertain significance Familial adenomatous polyposis 1 2016-10-26 criteria provided, single submitter clinical testing
Color Health, Inc RCV000131191 SCV000681683 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-17 criteria provided, single submitter clinical testing This missense variant replaces arginine with glycine at codon 1589 of the APC protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with multiple colorectal adenomas (PMID: 22773231). This variant has been identified in 19/282472 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
PreventionGenetics,PreventionGenetics RCV000211915 SCV000805412 uncertain significance not provided 2017-03-27 criteria provided, single submitter clinical testing
Mendelics RCV000232313 SCV000838121 uncertain significance Familial adenomatous polyposis 1 2018-07-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001157157 SCV001318704 uncertain significance APC-Associated Polyposis Disorders 2017-04-27 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000211915 SCV001469308 uncertain significance not provided 2020-04-23 criteria provided, single submitter clinical testing

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