ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1177_1178dup (p.Ser393fs)

dbSNP: rs1554829561
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673448 SCV000798651 likely pathogenic Fanconi anemia complementation group C 2018-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868271 SCV002201110 pathogenic Fanconi anemia 2021-04-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser393Argfs*21) 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). 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 conditions. For these reasons, this variant has been classified as Pathogenic.

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