ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2819C>G (p.Ser940Trp) (rs544709767)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560307 SCV000647269 uncertain significance Familial adenomatous polyposis 1 2018-04-03 criteria provided, single submitter clinical testing This sequence change replaces serine with tryptophan at codon 940 of the APC protein (p.Ser940Trp). The serine residue is moderately conserved and there is a large physicochemical difference between serine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 469773). 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: "Possibly Damaging"; 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000615455 SCV000731311 uncertain significance not specified 2016-12-08 criteria provided, single submitter clinical testing The p.Ser940Trp variant in APC has not been previously reported in individuals w ith APC-associated polyposis or in large population studies. Computational predi ction tools and conservation analysis suggest that the p.Ser940Trp variant may n ot impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Ser940Trp vari ant is uncertain.

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