ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.451A>T (p.Lys151Ter)

dbSNP: rs1825714345
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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 RCV001035894 SCV001199234 pathogenic Fanconi anemia 2019-04-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). This variant has not been reported in the literature in individuals with FANCC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys151*) in the FANCC gene. It is expected to result in an absent or disrupted protein product.

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