ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2240C>G (p.Ser747Ter) (rs773020689)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474685 SCV000552494 pathogenic Familial adenomatous polyposis 1 2016-11-02 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the APC mRNA at codon 747 (p.Ser747*). While this is not anticipated to result in nonsense mediated decay, it is expected to remove the final ~2097 amino acid residues of APC, which is equivalent to ~70% of the total protein. Loss-of-function variants in APC are known to be pathogenic. This particular truncation has been reported in individuals with familial adenomatous polyposis (PMID: 11247896, 20685668, 20223039). In addition, numerous pathogenic truncating variants have been reported downstream of codon 747 (PMID: 20223039). For these reasons, this variant has been classified as Pathogenic.

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