ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2114G>C (p.Ser705Thr)

dbSNP: rs752874220
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002230504 SCV000552554 uncertain significance Familial adenomatous polyposis 1 2016-08-09 criteria provided, single submitter clinical testing 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces serine with threonine at codon 705 of the APC protein (p.Ser705Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine.
GeneDx RCV001797090 SCV002039129 uncertain significance not provided 2021-06-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18199528)

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