ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.108_109dup (p.His37fs)

gnomAD frequency: 0.00001  dbSNP: rs1057517131
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409107 SCV000486796 likely pathogenic Fanconi anemia complementation group C 2016-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850957 SCV002244476 pathogenic Fanconi anemia 2021-02-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 371258). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His37Leufs*10) 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). For these reasons, this variant has been classified as Pathogenic.

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