ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4837C>T (p.Pro1613Ser) (rs1060503335)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471785 SCV000552677 uncertain significance Familial adenomatous polyposis 1 2016-04-05 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1613 of the APC protein (p.Pro1613Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a APC-related disease. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000574251 SCV000667498 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Color RCV000574251 SCV000686988 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-10 criteria provided, single submitter clinical testing

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