ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3425A>C (p.Asn1142Thr) (rs138410865)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470454 SCV000552631 uncertain significance Familial adenomatous polyposis 1 2018-10-03 criteria provided, single submitter clinical testing This sequence change replaces asparagine with threonine at codon 1142 of the APC protein (p.Asn1142Thr). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and threonine. This variant is present in population databases (rs138410865, ExAC 0.002%). This variant has been reported in an individual in the Universal Mutation Database (PMID: 24599579). However, in that individual a pathogenic allele (c.432delT) was also identified in the APC gene, which suggests that this c.3425A>C variant was not the primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 411461). 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: "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.
Ambry Genetics RCV000561662 SCV000667244 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000561662 SCV000903319 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-12 criteria provided, single submitter clinical testing

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