ClinVar Miner

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

dbSNP: 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 RCV003742625 SCV000647273 pathogenic Familial adenomatous polyposis 1 2017-06-21 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). 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.

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