ClinVar Miner

Submissions for variant NM_000038.6(APC):c.497_499delinsTT (p.Thr166fs) (rs1114167588)

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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 RCV000491467 SCV000579888 pathogenic Hereditary cancer-predisposing syndrome 2016-03-08 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 RCV000694736 SCV000823194 pathogenic Familial adenomatous polyposis 1 2018-05-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr166Ilefs*4) in the APC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 428149). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.

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