ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3196del (p.Arg1066fs) (rs878853436)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227841 SCV000282732 pathogenic Familial adenomatous polyposis 1 2016-01-23 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide in exon 16 of the APC mRNA (c.3196delA), causing a frameshift at codon 1066. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Arg1066Aspfs*60). While this is not anticipated to result in nonsense mediated decay, it is expected to result in an APC protein lacking more than 60% of the coding sequence. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in 2 individuals with familial adenomatous polyposis (FAP) (PMID: 20685668). In addition, multiple truncating variants downstream of this truncation have been reported as pathogenic in individuals with FAP (PMID: 17064931). For these reasons, this variant has been classified as Pathogenic.

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