ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2413C>T (p.Arg805Ter) (rs587779783)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168336 SCV000219025 pathogenic Familial adenomatous polyposis 1 2016-05-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 805 (p.Arg805*). It is expected to result in an absent or disrupted protein product. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported patients affected with familial adenomatous polyposis (PMID: 20649969, 8730280, 19531215, 20924072, 20223039). ClinVar contains an entry for this variant (Variation ID: 127281). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000115073 SCV000273569 pathogenic Hereditary cancer-predisposing syndrome 2015-01-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501097 SCV000591111 pathogenic Familial adenomatous polyposis 2015-09-01 criteria provided, single submitter clinical testing

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