ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3980C>G (p.Ser1327Ter) (rs1554085429)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541087 SCV000647485 pathogenic Familial adenomatous polyposis 1 2017-03-01 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the APC mRNA at codon 1327 (p.Ser1327*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 1,517 amino acids (>50%) of the APC protein. 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 FAP (PMID: 20685668, 20223039). For these reasons, this variant has been classified as Pathogenic.

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