ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.264-3C>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003168156 SCV003855316 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-21 criteria provided, single submitter clinical testing The c.264-3C>G intronic variant results from a C to G substitution 3 nucleotides upstream from coding exon 4 in the RAD51D gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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