ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1417C>T (p.Gln473Ter) (rs876658868)

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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 RCV000219498 SCV000274667 pathogenic Hereditary cancer-predisposing syndrome 2017-08-09 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)
Invitae RCV000538867 SCV000647176 pathogenic Familial adenomatous polyposis 1 2017-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 473 (p.Gln473*) of the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic. This particular variant has been reported in the literature in individuals and families affected with familial adenomatous polyposis (PMID: 9341879, 15108286). For these reasons, this variant has been classified as Pathogenic.

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