ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5432C>T (p.Ser1811Leu) (rs1060503325)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461055 SCV000552647 uncertain significance Familial adenomatous polyposis 1 2016-05-26 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 1811 of the APC protein (p.Ser1811Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with familial adenomatous polyposis (PMID: 26163615). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in an affected individual, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000461055 SCV000786610 uncertain significance Familial adenomatous polyposis 1 2018-06-07 criteria provided, single submitter clinical testing
Color RCV000775725 SCV000910147 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-17 criteria provided, single submitter clinical testing

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