ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.220del (p.Ala74fs)

dbSNP: rs1588350264
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004337 SCV001163259 likely pathogenic Fanconi anemia complementation group C criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003523055 SCV004264104 pathogenic Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala74Leufs*8) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 813414). For these reasons, this variant has been classified as Pathogenic.

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