ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1875_1878del (p.Asn627fs) (rs878853420)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232765 SCV000282705 pathogenic Familial adenomatous polyposis 1 2016-05-24 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 15 of the APC mRNA (c.1875_1878delGACA), causing a frameshift at codon 627. This creates a premature translational stop signal (p.Asn627Leufs*2) and is expected to result in an absent or disrupted protein product. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in the literature in individuals affected with familial adenomatous polyposis (PMID: 20685668, 19029688, 20924072, 8381580). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000582565 SCV000691721 pathogenic not provided no assertion criteria provided clinical testing

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