ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003037328 SCV003440929 pathogenic Fanconi anemia 2022-06-08 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 not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp92*) 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).
Baylor Genetics RCV003465918 SCV004196699 likely pathogenic Fanconi anemia complementation group C 2022-03-21 criteria provided, single submitter clinical testing

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