ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.345+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1175257797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066919 SCV001231943 likely pathogenic Fanconi anemia 2020-03-28 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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 not been reported in the literature in individuals with FANCC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 4 of the FANCC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Natera, Inc. RCV001066919 SCV002081282 likely pathogenic Fanconi anemia 2021-05-25 no assertion criteria provided clinical testing

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