ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1177T>C (p.Ser393Pro) (rs1060503352)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472518 SCV000552726 uncertain significance Familial adenomatous polyposis 1 2018-11-08 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 393 of the APC protein (p.Ser393Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 411526). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506739 SCV000600037 uncertain significance not specified 2017-05-18 criteria provided, single submitter clinical testing
Color RCV000775759 SCV000910197 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-28 criteria provided, single submitter clinical testing

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