ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.16_23del (p.Val6fs)

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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 RCV003524640 SCV004320007 pathogenic Fanconi anemia 2023-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val6Phefs*3) in the FANCC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. For these reasons, this variant has been classified as Pathogenic.

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