ClinVar Miner

Submissions for variant NM_000038.6(APC):c.453del (p.Glu152fs) (rs863224820)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200847 SCV000255244 pathogenic Familial adenomatous polyposis 1 2018-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu152Lysfs*18) 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 individuals with familial adenomatous polyposis (PMID: 20223039, 12702169, 23575299), and in a young child affected with hepatoblastoma (PMID: 23715166). ClinVar contains an entry for this variant (Variation ID: 216848). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000202272 SCV000293414 pathogenic not provided 2016-02-09 criteria provided, single submitter clinical testing This deletion of one nucleotide in APC is denoted c.453delA at the cDNA level and p.Glu152LysfsX18 (E152KfsX18) at the protein level. The normal sequence, with the base that is deleted in braces, is AAGA[A]GAAA. The deletion causes a frameshift, which changes a Glutamic Acid to a Lysine at codon 152, and creates a premature stop codon at position 18 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. APC c.453delA has been observed in association with Familial Adenomatous Polyposis (Friedl 2005, Rauch 2014). We consider this variant to be pathogenic.
Ambry Genetics RCV000491770 SCV000579817 pathogenic Hereditary cancer-predisposing syndrome 2017-06-19 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)
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202272 SCV000257000 pathogenic not provided no assertion criteria provided research

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