ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2795C>A (p.Ser932Ter) (rs878853432)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462669 SCV000552484 pathogenic Familial adenomatous polyposis 1 2016-05-28 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the APC mRNA at codon 932 (p.Ser932*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated APC protein by removing 1911 amino acid residues (~65%) from the protein. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in the literature in two individuals affected with familial adenomatous polyposis (FAP) (PMID: 1316610, 20685668). In addition, a different truncating variant (c.2795C>G; p.Ser932*) at the same position has been reported in individuals affected with FAP (PMID: 1338764, 20685668, 10083733). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506242 SCV000600065 pathogenic not provided 2017-06-27 criteria provided, single submitter clinical testing

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