ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.532A>G (p.Met178Val) (rs786202505)

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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 RCV000165349 SCV000216073 uncertain significance Hereditary cancer-predisposing syndrome 2014-08-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000649677 SCV000771508 uncertain significance Breast-ovarian cancer, familial 4 2018-12-19 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 178 of the RAD51D protein (p.Met178Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAD51D-related disease. ClinVar contains an entry for this variant (Variation ID: 185851). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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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