ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3469_3470GA[1] (p.Glu1157fs) (rs786203020)

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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 RCV000166142 SCV000216914 pathogenic Hereditary cancer-predisposing syndrome 2014-10-14 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 RCV000226886 SCV000282743 pathogenic Familial adenomatous polyposis 1 2016-03-02 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 16 of the APC mRNA (c.3471_3474delGAGA), causing a frameshift at codon 1157. This creates a premature translational stop signal (p.Glu1157Aspfs*7) and 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 in the literature in patients affected with familial adenomatous polyposis (PMID: 10440612, 16676398, 20685668, 17411426, 20223039). For these reasons, this variant has been classified as Pathogenic.

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