ClinVar Miner

Submissions for variant NM_000038.5(APC):c.7049C>T (p.Ser2350Phe) (rs75207119)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456428 SCV000552592 uncertain significance Familial adenomatous polyposis 1 2016-05-20 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 2350 of the APC protein (p.Ser2350Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. 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. ClinVar contains an entry for this variant (Variation ID: 83247). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. Therefore, it has been classified as a Variant of Uncertain Significance.
Systems Biology Platform Zhejiang California International NanoSystems Institute RCV000074243 SCV000105836 cancer Familial colorectal cancer no assertion criteria provided not provided Converted during submission to other.

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