ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.343C>T (p.Gln115Ter)

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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 RCV003635517 SCV004465695 pathogenic Fanconi anemia 2023-05-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FANCC-related conditions. This variant is present in population databases (rs748118992, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Gln115*) 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).

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