ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.576+1G>A (rs781161543)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410773 SCV000488554 pathogenic Breast-ovarian cancer, familial 4 2016-06-09 criteria provided, single submitter clinical testing
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785236 SCV000923804 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Invitae RCV000410773 SCV000651759 pathogenic Breast-ovarian cancer, familial 4 2018-10-07 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the RAD51D gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been reported as a common cause of ovarian and breast cancer in the Finnish population (PMID: 22652533). It has also been reported in an individual with endometrioid ovarian cancer (PMID: 26261251). ClinVar contains an entry for this variant (Variation ID: 371839). In a small case-control study involving approximately 2000 cases and controls from Finland, this variant was shown to confer an increased risk for ovarian cancer in individuals with a personal or family history (OR 9.16, 95% CI 1.07 -78.56, p=0.024), with the highest risk in breast-ovarian cancer families (OR 37.82, 95% CI 3.90-366.91, p=0.0016) (PMID: 22652533). Loss-of-function variants in RAD51D are known to be pathogenic (PMID: 21822267). For these reasons, this variant has been classified as Pathogenic.

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