ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs) (rs863225319)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227617 SCV000282706 pathogenic Familial adenomatous polyposis 1 2016-06-25 criteria provided, single submitter clinical testing This sequence change deletes 13 nucleotides and inserts 3 nucleotides in exon 15 of the APC mRNA (c.1892_1904delTTATTGAAAGTGGinsAAT), causing a frameshift at codon 631. This creates a premature translational stop signal (p.Ile631Lysfs*2) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in APC are known to be pathogenic (PMID: 20685668, 17963004). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202093 SCV000256933 likely pathogenic not provided no assertion criteria provided research

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