ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.165+1G>T (rs794726668)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000012831 SCV000487155 pathogenic Fanconi anemia, complementation group C 2016-10-14 criteria provided, single submitter clinical testing
Invitae RCV001221363 SCV001393403 pathogenic Fanconi anemia 2019-08-18 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 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 been observed to be homozygous or in combination with another FANCC variant in individuals affected with Fanconi anemia and to segregate with disease in families (PMID: 20869034). ClinVar contains an entry for this variant (Variation ID: 12051). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 20869034). 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). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012831 SCV000033071 pathogenic Fanconi anemia, complementation group C 2010-10-08 no assertion criteria provided literature only
Leiden Open Variation Database RCV000012831 SCV001365309 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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