ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1257del (p.Thr420fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804708 SCV000944630 pathogenic Fanconi anemia 2018-07-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr420Argfs*27) in the FANCC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FANCC-related disease. Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000988203 SCV001137840 pathogenic Fanconi anemia, complementation group A 2019-05-28 criteria provided, single submitter clinical testing

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