ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.481-5T>G (rs374382703)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000160948 SCV000215088 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000160948 SCV000904089 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-24 criteria provided, single submitter clinical testing
GeneDx RCV000212961 SCV000211655 likely benign not specified 2017-08-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000649694 SCV000771526 uncertain significance Breast-ovarian cancer, familial 4 2018-12-16 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the RAD51D gene. It does not directly change the encoded amino acid sequence of the RAD51D protein. This variant is present in population databases (rs374382703, ExAC 0.002%). This variant has not been reported in the literature in individuals with RAD51D-related disease. ClinVar contains an entry for this variant (Variation ID: 182859). 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.

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