ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2863del (p.Glu955fs) (rs1554084553)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547351 SCV000647277 pathogenic Familial adenomatous polyposis 1 2017-06-03 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the APC gene (p.Glu955Asnfs*10). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1889 amino acids (66%) 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 who underwent genetic testing for familial adenomatous polyposis (PMID: 23159591). In addition, multiple truncating variants downstream of this truncation have been reported as pathogenic in individuals with familial adenomatous polyposis (PMID: 17064931, 1316610). For these reasons, this variant has been classified as Pathogenic.

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