ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1927T>C (p.Ser643Pro) (rs78349383)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574304 SCV000667759 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000808131 SCV000948223 uncertain significance Familial adenomatous polyposis 1 2018-12-16 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 643 of the APC protein (p.Ser643Pro). 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 been observed in an individual affected with multiple colorectal polyps (PMID: 18199528). ClinVar contains an entry for this variant (Variation ID: 82615). 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 disruptive, 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.
Systems Biology Platform Zhejiang California International NanoSystems Institute RCV000073604 SCV000105195 cancer Familial colorectal cancer no assertion criteria provided not provided Converted during submission to other.

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