ClinVar Miner

Submissions for variant NM_173472.2(FANCD2OS):c.43+5354_43+5361del (rs878855172)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231592 SCV000291162 uncertain significance Fanconi anemia 2016-03-21 criteria provided, single submitter clinical testing This sequence change deletes 8 nucleotide from exon 43 of the FANCD2 mRNA (c.4303_4310delGAGTCTGG), causing a frameshift at codon 1435. This creates a premature translational stop signal in the last exon of the FANCD2 mRNA (p.Glu1435Hisfs*2). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated FANCD2 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FANCD2-related disease. In summary, this variant is a novel frameshift deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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