ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.124C>T (p.Gln42Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003145116 SCV003832812 likely pathogenic Fanconi anemia complementation group C 2022-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003635999 SCV004436722 pathogenic Fanconi anemia 2023-02-03 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs758116389, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln42*) 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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