ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5879C>T (p.Pro1960Leu) (rs587781546)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129560 SCV000184341 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-24 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Counsyl RCV000411270 SCV000489147 uncertain significance Familial adenomatous polyposis 1 2016-08-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985310 SCV001133351 uncertain significance not provided 2019-03-08 criteria provided, single submitter clinical testing
Mendelics RCV000411270 SCV001136926 uncertain significance Familial adenomatous polyposis 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001155576 SCV001317013 uncertain significance APC-Associated Polyposis Disorders 2017-05-06 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.
Invitae RCV000411270 SCV001406320 uncertain significance Familial adenomatous polyposis 1 2019-09-23 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1960 of the APC protein (p.Pro1960Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs587781546, ExAC 0.009%). This variant has been observed in individuals affected with colorectal cancer (PMID: 27978560, 28135145). ClinVar contains an entry for this variant (Variation ID: 141168). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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