ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2837del (p.Thr946fs) (rs1554084529)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537934 SCV000647273 pathogenic Familial adenomatous polyposis 1 2017-06-29 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the APC gene (p.Thr946Asnfs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1,898 amino acids of the APC protein. This variant is not present in population databases (ExAC no frequency). While this particular variant has not been reported in the literature, loss-of-function variants in APC are known to be pathogenic (PMID: 20685668, 17963004). In addition, multiple truncating variants downstream of this variant have been reported as pathogenic in individuals with familial adenomatous polyposis (PMID: 17064931, 23159591, Invitae). For these reasons, this variant has been classified as Pathogenic.

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