ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3643A>C (p.Ser1215Arg)

dbSNP: rs2149896195
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003772589 SCV002134708 uncertain significance Familial adenomatous polyposis 1 2021-10-11 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. This missense change has been observed in individual(s) with familial adenomatous polyposis (FAP) (PMID: 19029688). This sequence change replaces serine with arginine at codon 1215 of the APC protein (p.Ser1215Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency).

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