ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.670_705+64dup (rs1555597210)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199181 SCV000255312 uncertain significance Fanconi anemia, complementation group O 2015-01-06 criteria provided, single submitter clinical testing This variant is a tandem duplication of the genomic region encompassing the last 36 nucleotides of exon 4 and the first 64 nucleotides of intron 4 (c.670_705+64dup). This results in the insertion of 100 nucleotides in intron 4 of the RAD51C mRNA. This variant has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant does not alter mRNA splicing at the consensus splice site, but may alter mRNA splicing through the creation of a novel acceptor splice site. However, these predictions have not been confirmed by published transcriptional studies. In summary, this is a novel duplication with uncertain impact on mRNA splicing and protein function. It has been classified as a Variant of Uncertain Significance.

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