ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3164_3168del (p.Ile1055fs) (rs1554084772)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568840 SCV000675891 pathogenic Hereditary cancer-predisposing syndrome 2016-03-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000646494 SCV000768267 pathogenic Familial adenomatous polyposis 1 2017-11-20 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the APC gene (p.Ile1055Argfs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1789 amino acids (approximately 63%) of the APC protein. This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in APC are known to be pathogenic. This variant has been reported in several individuals affected with familial adenomatous polyposis (PMID: 1316610, 20685668, 20564245, 19029688, 20223039, 18433509). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758726 SCV000887515 pathogenic not provided 2018-07-31 criteria provided, single submitter clinical testing

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