ClinVar Miner

Submissions for variant NM_000038.6(APC):c.677del (p.Lys226fs) (rs863225371)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000779707 SCV000916462 likely pathogenic Familial multiple polyposis syndrome 2017-12-11 criteria provided, single submitter clinical testing Variant summary: The c.677delA (p.Lys226Argfs*67) variant in APC gene is a frameshift change, which is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. The variant is absent from the large control population datasets of ExAC and gnomAD (120204 and 245862 chrs tested, respectively). The c.677delA has been reported in at least one FAP patient (Friedl_2005) and is cited as Likely Pathogenic by a reputable database/clinical laboratory. Other truncated variants, such as c. c.778C>T (p.Gln260X) and c.797dup (p.Glu268ArgfsX9), have been reported in association with FAP. Taking together, the variant was classified as Likely Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000202065 SCV000257027 likely pathogenic not provided no assertion criteria provided clinical testing

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