ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1887_1894del (p.Leu629fs)

dbSNP: rs2149843371
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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 RCV004571705 SCV002234166 pathogenic Familial adenomatous polyposis 1 2023-07-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu629Phefs*2) 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). ClinVar contains an entry for this variant (Variation ID: 1452193). For these reasons, this variant has been classified as Pathogenic.

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