ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2031_2034del (p.Ser678fs) (rs878853422)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230843 SCV000282710 pathogenic Familial adenomatous polyposis 1 2016-01-01 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 16 of the APC mRNA (c.2031_2034delCAGT), causing a frameshift at codon 678. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Ser678Metfs*39). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated APC protein with more than 2100 amino acid residues (75%) deleted. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in the literature in individuals with familial adenomatous polyposis (PMID: 17411426). For these reasons, this variant has been classified as Pathogenic.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500203 SCV000591105 pathogenic Familial adenomatous polyposis 2012-04-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759417 SCV000888727 pathogenic not provided 2018-06-27 criteria provided, single submitter clinical testing

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