ClinVar Miner

Submissions for variant NM_000038.6(APC):c.350C>A (p.Ser117Ter) (rs1064793535)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482015 SCV000566355 pathogenic not provided 2017-10-18 criteria provided, single submitter clinical testing This pathogenic variant is denoted APC c.350C>A at the cDNA level and p.Ser117Ter (S117X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in association with attenuated Familial Adenomatous Polyposis (Kerr 2013) and is considered pathogenic.
Ambry Genetics RCV000561431 SCV000675927 pathogenic Hereditary cancer-predisposing syndrome 2017-01-19 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)
Invitae RCV000646504 SCV000768277 pathogenic Familial adenomatous polyposis 1 2018-07-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser117*) 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 affected with APC-related disease (PMID: 11960572, 23159591). ClinVar contains an entry for this variant (Variation ID: 418932). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.

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