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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