ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1638del (p.Ser546fs)

dbSNP: rs2149816966
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003771268 SCV001589535 pathogenic Familial adenomatous polyposis 1 2020-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser546Argfs*3) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related conditions. For these reasons, this variant has been classified as Pathogenic.

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