ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.565_568del (p.Val189fs)

dbSNP: rs2091603173
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001066741 SCV001231758 pathogenic Breast-ovarian cancer, familial, susceptibility to, 4 2024-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val189Profs*4) in the RAD51D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51D are known to be pathogenic (PMID: 21822267). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. ClinVar contains an entry for this variant (Variation ID: 860443). For these reasons, this variant has been classified as Pathogenic.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004596406 SCV005090320 pathogenic not provided 2025-03-04 criteria provided, single submitter clinical testing

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