ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4363_4365delinsGCTGA (p.Asn1455fs) (rs1554085825)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646491 SCV000768264 pathogenic Familial adenomatous polyposis 1 2017-10-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the APC gene (p.Asn1455Alafs*19). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1389 amino acids (49%) of the APC protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related disease. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.

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