ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.251-2A>G

dbSNP: rs1057517219
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558309 SCV000626244 pathogenic Fanconi anemia 2017-10-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with anemia (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 3 of the FANCC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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