ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.263+3T>G

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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 RCV002426472 SCV002743253 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-29 criteria provided, single submitter clinical testing The c.263+3T>G intronic variant results from a T to G substitution 3 nucleotides after coding exon 3 in the RAD51D gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. RNA studies have demonstrated that this alteration results in an incomplete splice defect involving exons excluded from naturally occurring transcripts; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003643022 SCV004384634 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2023-06-12 criteria provided, single submitter clinical testing

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