ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2635C>T (p.Gln879Ter) (rs1060503287)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474490 SCV000552540 pathogenic Familial adenomatous polyposis 1 2016-12-05 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 879 (p.Gln879*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 1965 amino acids (~69%) of the APC protein. Loss-of-function variants in APC are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with familial adenomatous polyposis (PMID: 10094547). For these reasons, this variant has been classified as Pathogenic.

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