ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1073-1G>C

dbSNP: rs1554830249
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670553 SCV000795416 likely pathogenic Fanconi anemia complementation group C 2017-11-15 criteria provided, single submitter clinical testing
Invitae RCV001868245 SCV002175585 pathogenic Fanconi anemia 2023-09-27 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 11 of the FANCC gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). Disruption of this splice site has been observed in individual(s) with Fanconi anemia (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 554852). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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