ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.672_705+65dup (rs1555597214)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216680 SCV000276212 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000532240 SCV000650021 uncertain significance Fanconi anemia, complementation group O 2017-07-09 criteria provided, single submitter clinical testing This sequence change duplicates the last 34 nucleotides of exon 4 and the first 65 nucleotides of intron 4 (c.672_705+65dup). This results in the insertion of 99 nucleotides in intron 4, which is not expected to change the encoded amino acid sequence of the RAD51C protein. However, it generates a duplicated 5' consensus splice site in the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a RAD51C-related disease. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant does not alter RNA splicing at the original consensus splice site. However, it may alter RNA splicing through the duplicated consensus splice site, or the creation of a novel acceptor splice site. This prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on RAD51C splicing. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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