ClinVar Miner

Submissions for variant NM_000038.6(APC):c.471G>A (p.Trp157Ter) (rs1060503328)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458690 SCV000552658 pathogenic Familial adenomatous polyposis 1 2017-10-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 157 (p.Trp157*) of the APC gene. It is expected to result in an absent or disrupted protein product. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in the literature in individuals affected with familial adenomatous polyposis (PMID: 20685668, 8381580). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000583237 SCV000691704 pathogenic not provided no assertion criteria provided clinical testing

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