ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6680G>T (p.Gly2227Val) (rs786203367)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166644 SCV000217448 uncertain significance Hereditary cancer-predisposing syndrome 2014-11-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000228117 SCV000282801 uncertain significance Familial adenomatous polyposis 1 2015-12-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 2227 of the APC protein (p.Gly2227Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual in the Universal Mutation Database (PMID: 24599579). ClinVar contains an entry for this variant (Variation ID: 186972). 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 C15"). In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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