ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1658G>A (p.Trp553Ter) (rs863225318)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474455 SCV000552454 pathogenic Familial adenomatous polyposis 1 2018-08-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp553*) in the APC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with familial adenomatous polyposis (PMID: 1338764). ClinVar contains an entry for this variant (Variation ID: 217935). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000572094 SCV000675880 pathogenic Hereditary cancer-predisposing syndrome 2016-02-04 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)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000202102 SCV001133303 pathogenic not provided 2019-03-15 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202102 SCV000256930 pathogenic not provided no assertion criteria provided research

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