ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) (rs121913327)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168134 SCV000218793 pathogenic Familial adenomatous polyposis 1 2014-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1338 (p.Gln1338*). It is expected to result in an absent or disrupted protein product. This sequence change has been reported in the literature and is not present in population databases (rs121913327). This sequence change is reported in a patient with adenomatous polyposis as CAG>TAG at nt 4015 (PMID: 8381579). For these reasons, this sequence change has been classified as Pathogenic.
Counsyl RCV000168134 SCV000488416 pathogenic Familial adenomatous polyposis 1 2016-03-22 criteria provided, single submitter clinical testing
OMIM RCV000000838 SCV000020988 pathogenic Carcinoma of colon 1991-08-09 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423362 SCV000505000 likely pathogenic Neoplasm of the large intestine 2015-07-14 no assertion criteria provided literature only

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