ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4285C>T (p.Gln1429Ter)

dbSNP: rs74535574
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003337273 SCV004045692 pathogenic Familial adenomatous polyposis 1 2023-05-10 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Institute of Human Genetics, University of Leipzig Medical Center RCV003337273 SCV004175938 pathogenic Familial adenomatous polyposis 1 2023-12-14 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_MOD,PM2_SUP
Database of Curated Mutations (DoCM) RCV000433006 SCV000505004 likely pathogenic Neoplasm of the large intestine 2015-07-14 no assertion criteria provided literature only

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