ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.843+1G>A (rs587779909)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204814 SCV000260307 likely pathogenic Fanconi anemia 2019-03-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the FANCC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. 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. 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). 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.
Counsyl RCV000410480 SCV000485681 likely pathogenic Fanconi anemia, complementation group C 2016-01-27 no assertion criteria provided clinical testing
Leiden Open Variation Database RCV000410480 SCV001365324 pathogenic Fanconi anemia, complementation group C 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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