ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.885G>A (p.Leu295=) (rs876659714)

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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 RCV000217562 SCV000276470 likely benign Hereditary cancer-predisposing syndrome 2015-06-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000551311 SCV000651792 uncertain significance Breast-ovarian cancer, familial 4 2017-03-14 criteria provided, single submitter clinical testing This sequence change affects codon 295 of the RAD51D mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RAD51D protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RAD51D-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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