ClinVar Miner

Submissions for variant NM_000038.6(APC):c.505_509del (p.Arg168_Ile169insTer)

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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 RCV004565452 SCV004293602 pathogenic Familial adenomatous polyposis 1 2023-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with attenuated familial adenomatous polyposis (PMID: 17411426). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile169*) 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).

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