ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1415dup (p.Gln473fs)

dbSNP: rs1561553403
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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 RCV004564260 SCV000813276 pathogenic Familial adenomatous polyposis 1 2018-05-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). This variant has been reported in an individual affected with familial adenomatous polyposis (PMID: 23159591). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln473Thrfs*12) in the APC gene. It is expected to result in an absent or disrupted protein product.

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