ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6257C>G (p.Pro2086Arg) (rs786202975)

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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 RCV000166066 SCV000216828 uncertain significance Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000205730 SCV000259350 uncertain significance Familial adenomatous polyposis 1 2015-07-09 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 2086 of the APC protein (p.Pro2086Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant has not been published in the literature and is not present in population databases. ClinVar contains an entry for this variant (RCV000166066). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000515279 SCV000611339 uncertain significance Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma 2017-05-23 criteria provided, single submitter clinical testing
Counsyl RCV000205730 SCV000785536 uncertain significance Familial adenomatous polyposis 1 2017-09-05 criteria provided, single submitter clinical testing

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