ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4540C>T (p.Pro1514Ser) (rs1060503266)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572447 SCV000672536 uncertain significance Hereditary cancer-predisposing syndrome 2015-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000608323 SCV000712649 uncertain significance not specified 2016-11-25 criteria provided, single submitter clinical testing The p.Pro1514Ser variant in APC has not been previously reported in individuals with hereditary cancer or in large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Pro1514Ser variant is uncertain.
Color RCV000572447 SCV000913110 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-01 criteria provided, single submitter clinical testing
Invitae RCV000818263 SCV000958865 uncertain significance Familial adenomatous polyposis 1 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1514 of the APC protein (p.Pro1514Ser). 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). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 485110). 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: "Tolerated"; PolyPhen-2: "Probably 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.

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