ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.144+3G>T (rs761057565)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529772 SCV000651716 uncertain significance Breast-ovarian cancer, familial 4 2019-01-09 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the RAD51D gene. It does not directly change the encoded amino acid sequence of the RAD51D protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs761057565, ExAC 0.07%). This variant has not been reported in the literature in individuals with RAD51D-related disease. ClinVar contains an entry for this variant (Variation ID: 472589). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000563004 SCV000667147 likely benign Hereditary cancer-predisposing syndrome 2018-03-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,RNA Studies,Other data supporting benign classification

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