ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5042C>T (p.Ser1681Leu) (rs876659056)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220997 SCV000275051 uncertain significance Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000476873 SCV000552566 uncertain significance Familial adenomatous polyposis 1 2016-07-03 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 1681 of the APC protein (p.Ser1681Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. 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: 231258). 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: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Color RCV000220997 SCV000686997 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-14 criteria provided, single submitter clinical testing

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