ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3404_3405del (p.Asp1134_Tyr1135insTer) (rs864622086)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206302 SCV000259299 pathogenic Familial adenomatous polyposis 1 2015-07-06 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides in exon 16 of the APC mRNA (c.3404_3405delAT), causing a frameshift at codon 1135. This creates a premature translational stop signal (p.Tyr1135*) 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 a patient with familial adenomatous polyposis (, PMID: 21520333). For these reasons, this variant has been classified as Pathogenic.

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